Variant report

Variant	rs62064651
Chromosome Location	chr17:43503000-43503001
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr17:43502887-43503471	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:43502795-43503386	Hela-S3	cervix:	n/a	n/a
3	E2F4	chr17:43502954-43503388	MCF10A-Er-Src	breast:	n/a	n/a
4	RFX5	chr17:43502912-43503442	Hela-S3	cervix:	n/a	n/a
5	FOSL2	chr17:43502306-43503484	HepG2	liver:	n/a	chr17:43502516-43502526 chr17:43502516-43502525 chr17:43502517-43502526
6	YY1	chr17:43502772-43503551	HepG2	liver:	n/a	chr17:43503075-43503089 chr17:43502974-43502988
7	MYC	chr17:43502956-43503445	MCF10A-Er-Src	breast:	n/a	n/a
8	REST	chr17:43502615-43503511	A549	lung:	n/a	chr17:43503163-43503183 chr17:43503032-43503042 chr17:43502807-43502820
9	MYC	chr17:43502961-43503129	MCF-7	breast:	n/a	n/a
10	POLR2A	chr17:43502580-43503454	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAZ	chr17:43502804-43503496	K562	blood:	n/a	n/a
12	CHD2	chr17:43502739-43503381	Hela-S3	cervix:	n/a	chr17:43502915-43502925
13	MAX	chr17:43502946-43503454	HepG2	liver:	n/a	n/a
14	HCFC1	chr17:43502255-43503570	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr17:43502673-43503507	H1-hESC	embryonic stem cell:	n/a	n/a
16	ARID3A	chr17:43502923-43503439	HepG2	liver:	n/a	n/a
17	EP300	chr17:43502454-43503350	HepG2	liver:	n/a	chr17:43503075-43503091
18	MAX	chr17:43502601-43503679	A549	lung:	n/a	n/a
19	RCOR1	chr17:43502974-43503504	HepG2	liver:	n/a	n/a
20	STAT3	chr17:43502835-43503316	MCF10A-Er-Src	breast:	n/a	chr17:43503250-43503262 chr17:43502860-43502872
21	ZNF143	chr17:43502828-43503403	Hela-S3	cervix:	n/a	chr17:43503051-43503070
22	EP300	chr17:43502762-43503175	T-47D	breast:	n/a	chr17:43503075-43503091
23	GABPA	chr17:43502941-43503393	MCF-7	breast:	n/a	n/a
24	SP1	chr17:43502672-43503587	A549	lung:	n/a	chr17:43503190-43503197 chr17:43502826-43502838 chr17:43502828-43502837 chr17:43502826-43502838 chr17:43503126-43503135 chr17:43502827-43502836 chr17:43503081-43503090 chr17:43502823-43502837
25	POLR2A	chr17:43502800-43503146	H1-hESC	embryonic stem cell:	n/a	n/a
26	MXI1	chr17:43502925-43503428	Hela-S3	cervix:	n/a	n/a
27	MAX	chr17:43502936-43503502	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr17:43502995-43503599	A549	lung:	n/a	chr17:43503498-43503507 chr17:43503071-43503085 chr17:43503314-43503333
29	POLR2A	chr17:43502642-43503444	HepG2	liver:	n/a	n/a
30	POLR2A	chr17:43502860-43503343	H1-hESC	embryonic stem cell:	n/a	n/a
31	STAT3	chr17:43502760-43503306	MCF10A-Er-Src	breast:	n/a	chr17:43503250-43503262 chr17:43502860-43502872
32	MYBL2	chr17:43502509-43503626	HepG2	liver:	n/a	n/a
33	CTCF	chr17:43502987-43503598	A549	lung:	n/a	chr17:43503316-43503334 chr17:43503318-43503331 chr17:43503498-43503506 chr17:43503072-43503085
34	BCL3	chr17:43502601-43503406	A549	lung:	n/a	chr17:43503112-43503121
35	SP1	chr17:43502577-43503380	HepG2	liver:	n/a	chr17:43503190-43503197 chr17:43502826-43502838 chr17:43502597-43502607 chr17:43502828-43502837 chr17:43502597-43502606 chr17:43502826-43502838 chr17:43503126-43503135 chr17:43502827-43502836 chr17:43502593-43502607 chr17:43503081-43503090 chr17:43502823-43502837
36	POLR2A	chr17:43502780-43503461	HCT-116	colon:	n/a	n/a
37	RAD21	chr17:43502988-43503493	H1-hESC	embryonic stem cell:	n/a	chr17:43503071-43503085 chr17:43503314-43503333
38	CTCF	chr17:43502980-43503130	Hela-S3	cervix:	n/a	chr17:43503072-43503085
39	STAT3	chr17:43502950-43503150	MCF10A-Er-Src	breast:	n/a	n/a
40	CREB1	chr17:43502880-43503469	A549	lung:	n/a	n/a
41	MAX	chr17:43502829-43503539	MCF-7	breast:	n/a	n/a
42	MAX	chr17:43502721-43503593	A549	lung:	n/a	n/a
43	POLR2A	chr17:43502794-43503335	H1-hESC	embryonic stem cell:	n/a	n/a
44	TCF12	chr17:43502402-43503477	ECC-1	luminal epithelium:	n/a	chr17:43502507-43502517
45	POLR2A	chr17:43502626-43503431	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr17:43502772-43503334	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr17:43502643-43503261	MCF-7	breast:	n/a	n/a
48	STAT3	chr17:43502754-43503336	MCF10A-Er-Src	breast:	n/a	chr17:43503250-43503262 chr17:43502860-43502872
49	SIN3AK20	chr17:43502890-43503256	HepG2	liver:	n/a	n/a
50	MAFK	chr17:43502999-43503437	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:43502999-43503049	BE2_C	brain:	n/a
2	chr17:43502999-43503049	SKMC	muscle:	n/a
3	chr17:43502999-43503049	GM12891	blood:	n/a
4	chr17:43502999-43503049	HL-60	blood:	n/a
5	chr17:43502999-43503049	HCT-116	colon:	n/a
6	chr17:43502999-43503049	HAEpiC	amniotic membrane:	n/a
7	chr17:43502999-43503049	MCF10A-Er-Src	breast:	n/a
8	chr17:43502999-43503049	HEEpiC	esophagus:	n/a
9	chr17:43502999-43503049	CMK	blood:	n/a
10	chr17:43502999-43503049	BJ	skin:	n/a
11	chr17:43502999-43503049	NH-A	brain:	n/a
12	chr17:43502999-43503049	AG09309	skin:	n/a
13	chr17:43502999-43503049	GM12878	blood:	n/a
14	chr17:43502999-43503049	Hepatocyte	liver:	n/a
15	chr17:43502999-43503049	HCM	heart:	n/a
16	chr17:43502999-43503049	SK-N-MC	brain:	n/a
17	chr17:43502999-43503049	AoSMC	blood vessel:	n/a
18	chr17:43502999-43503049	U87	brain:	n/a
19	chr17:43502999-43503049	HRCEpiC	kidney:	n/a
20	chr17:43502999-43503049	ECC-1	luminal epithelium:	n/a
21	chr17:43502999-43503049	AG10803	skin:	n/a
22	chr17:43502999-43503049	SAEC	small airway:	n/a
23	chr17:43502999-43503049	NHDF-neo	bronchial:	n/a
24	chr17:43502999-43503049	HEK293	kidney:	embryo
25	chr17:43502999-43503049	Hela-S3	cervix:	n/a
26	chr17:43502999-43503049	PrEC	prostate:	n/a
27	chr17:43502999-43503049	HPAEpiC	pulmonary alveolar:	n/a
28	chr17:43502999-43503049	PANC-1	pancreas:	n/a
29	chr17:43502999-43503049	GM06990	blood:	n/a
30	chr17:43502999-43503049	SK-N-SH_RA	brain:	n/a
31	chr17:43502999-43503049	HCF	heart:	n/a
32	chr17:43502999-43503049	A549	lung:	n/a
33	chr17:43502999-43503049	AG04449	skin:	fetal
34	chr17:43502999-43503049	AG09319	gingival:	n/a
35	chr17:43502999-43503049	HRPEpiC	eye:	n/a
36	chr17:43502999-43503049	HMEC	breast:	n/a
37	chr17:43502999-43503049	K562	blood:	n/a
38	chr17:43502999-43503049	Caco-2	colon:	n/a
39	chr17:43502999-43503049	HUVEC	blood vessel:	n/a
40	chr17:43502999-43503049	Jurkat	blood:	n/a
41	chr17:43502999-43503049	GM19239	blood:	n/a
42	chr17:43502999-43503049	RPTEC	kidney:	n/a
43	chr17:43502999-43503049	HCPEpiC	choroid plexus:	n/a
44	chr17:43502999-43503049	NB4	blood:	n/a
45	chr17:43502999-43503049	HRE	kidney:	n/a
46	chr17:43502999-43503049	ProgFib	skin:	n/a
47	chr17:43502999-43503049	ovcar-3	ovarian:	n/a
48	chr17:43502999-43503049	NHBE	bronchial:	n/a
49	chr17:43502999-43503049	NT2-D1	testis:	n/a
50	chr17:43502999-43503049	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:43324524..43327061-chr17:43500908..43504321,4	MCF-7	breast:
2	chr17:43471887..43473377-chr17:43502761..43503819,7	MCF-7	breast:
3	chr17:43502180..43505047-chr17:43970966..43974065,3	MCF-7	breast:
4	chr17:43487372..43488970-chr17:43502341..43504039,2	MCF-7	breast:
5	chr17:43502375..43503245-chr2:106014930..106015768,2	HCT-116	colon:
6	chr17:43502382..43503215-chr17:62207261..62207905,2	HCT-116	colon:
7	chr17:43501715..43503974-chr17:43507657..43510348,3	MCF-7	breast:
8	chr17:43213295..43214838-chr17:43501278..43504057,2	MCF-7	breast:
9	chr17:43479466..43481863-chr17:43502551..43504495,2	MCF-7	breast:
10	chr17:43485567..43488047-chr17:43501616..43504138,2	MCF-7	breast:
11	chr17:43297580..43300347-chr17:43502925..43505246,3	K562	blood:
12	chr17:43212320..43213240-chr17:43502405..43503725,3	K562	blood:
13	chr1:45186798..45187678-chr17:43502939..43503458,2	HCT-116	colon:
14	chr17:43501401..43503182-chr17:43508338..43510884,3	MCF-7	breast:

Variant related genes	Relation type
ARHGAP27	TF binding region
ARHGAP27	CpG island
ENSG00000199377	Chromatin interaction
ENSG00000181513	Chromatin interaction
ENSG00000264589	Chromatin interaction
ENSG00000159314	Chromatin interaction
ENSG00000267278	Chromatin interaction
ENSG00000115641	Chromatin interaction
ENSG00000233483	Chromatin interaction
ENSG00000178607	Chromatin interaction
ENSG00000267121	Chromatin interaction
ENSG00000186868	Chromatin interaction
ENSG00000184922	Chromatin interaction

Extended variants
information (count: 163 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs11012	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12452273	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12939187	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12940792	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12942666	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12942951	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12946723	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12946900	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12947718	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12949256	0.82[EUR][1000 genomes]
rs12950965	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12952504	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12952764	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17631303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17631676	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1808189	0.87[EUR][1000 genomes]
rs1879581	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1879583	0.81[EUR][1000 genomes]
rs1879585	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2028078	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2077606	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2090847	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2139890	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2960000	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34018943	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34063617	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34104358	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34286926	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34363898	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34465449	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34792542	0.83[EUR][1000 genomes]
rs34887474	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34915103	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35327136	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35389313	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35489312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35519908	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35626715	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35884427	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36078910	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36114997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3946526	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4763	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55642947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55643511	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55648326	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55652155	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55663797	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55671319	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55703888	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55746869	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55790407	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55793500	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55914643	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55925547	0.92[EUR][1000 genomes]
rs56005713	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56015792	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56020833	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56159231	0.88[EUR][1000 genomes]
rs56168933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56192752	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56212100	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56220387	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56236914	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56378631	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62064597	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62064598	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62064600	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62064603	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62064637	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62064641	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62064643	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62064645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62064646	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62064647	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62064649	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62064652	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62064653	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62064654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62064655	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62064657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62065374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62065376	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62065377	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62065378	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62065379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62065380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62065385	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62065389	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62065391	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62065392	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62065393	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62065399	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62065403	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62065404	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62065436	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62065437	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62065438	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62065441	0.82[EUR][1000 genomes]
rs62065442	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62065444	0.83[EUR][1000 genomes]
rs62065445	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62065447	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62065448	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62065449	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71238846	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71373560	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71373572	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7209501	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7220206	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7222389	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7222444	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73984391	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8071011	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9730	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431632	chr17:43199763-43733983	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	210 gene(s)	inside rSNPs	diseases
2	nsv431633	chr17:43199763-43772540	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	210 gene(s)	inside rSNPs	diseases
3	nsv431634	chr17:43346980-43659975	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv431636	chr17:43403005-43659881	Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv2754858	chr17:43403005-43666906	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv431637	chr17:43403005-43716885	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv428342	chr17:43443554-43651084	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	esv2757659	chr17:43457886-43733983	Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	esv2758691	chr17:43457886-43816023	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	esv2755280	chr17:43459697-43666906	Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv908304	chr17:43467025-43524511	Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1065930	chr17:43467291-44151468	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
13	nsv431638	chr17:43470156-43693538	Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
14	esv2755741	chr17:43470760-43655688	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
15	nsv431639	chr17:43470760-43659355	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
16	esv2754089	chr17:43470760-43659881	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	esv34266	chr17:43470760-43659975	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	esv34577	chr17:43470760-43659975	Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	esv2752564	chr17:43470760-43659975	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	esv2753343	chr17:43470760-43659975	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
21	esv2753852	chr17:43470760-43659975	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
22	esv2754692	chr17:43470760-43659975	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
23	esv2754773	chr17:43470760-43659975	Strong transcription Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
24	esv2754821	chr17:43470760-43659975	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
25	esv2755261	chr17:43470760-43659975	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
26	esv2755434	chr17:43470760-43659975	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
27	esv2755618	chr17:43470760-43659975	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
28	esv2756206	chr17:43470760-43659975	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
29	esv2756211	chr17:43470760-43659975	Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
30	esv2756238	chr17:43470760-43659975	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
31	esv2756640	chr17:43470760-43659975	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
32	esv34307	chr17:43470760-43666906	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
33	esv2755466	chr17:43470760-43666906	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
34	esv2756448	chr17:43470760-43666906	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
35	nsv431640	chr17:43470760-43666906	Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
36	esv2753768	chr17:43470760-43734304	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
37	esv2754725	chr17:43470760-43741452	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
38	esv2752397	chr17:43485791-43659975	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
39	esv2753431	chr17:43485791-43659975	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
40	esv2755266	chr17:43485791-43659975	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
41	esv2755477	chr17:43485791-43659975	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
42	esv2755480	chr17:43485791-43659975	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
43	esv2756392	chr17:43485791-43659975	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
44	nsv431641	chr17:43485791-43659975	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
45	esv35084	chr17:43485791-43666906	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
46	esv2754833	chr17:43485791-43666906	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
47	nsv431643	chr17:43485791-43666906	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
48	nsv431642	chr17:43485791-43716885	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs62064651	LOC644246	Cis_1M	lymphoblastoid	RTeQTL
rs62064651	ARL17	Cis_1M	lymphoblastoid	RTeQTL
rs62064651	MAPK8IP1	trans	lymphoblastoid	RTeQTL
rs62064651	ARHGAP27	Cis_1M	lymphoblastoid	RTeQTL
rs62064651	LRRC37A4	cis	multi-tissue	Pritchard
rs62064651	LRRC37A4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:43488800-43505400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr17:43489600-43505400	Weak transcription	Brain Hippocampus Middle	brain
3	chr17:43490200-43503000	Weak transcription	Adipose Nuclei	Adipose
4	chr17:43490200-43505600	Weak transcription	Thymus	Thymus
5	chr17:43493200-43503800	Weak transcription	Spleen	Spleen
6	chr17:43496600-43505800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:43500600-43503000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr17:43500800-43503000	Active TSS	Duodenum Mucosa	Duodenum
9	chr17:43501000-43503000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr17:43501000-43503000	Active TSS	Rectal Smooth Muscle	rectum
11	chr17:43501000-43503600	Active TSS	Colonic Mucosa	Colon
12	chr17:43501200-43503000	Active TSS	Fetal Intestine Large	intestine
13	chr17:43501200-43503000	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr17:43501400-43503000	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr17:43501400-43503400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:43501400-43504200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr17:43501600-43503000	Active TSS	Left Ventricle	heart
18	chr17:43501600-43503200	Active TSS	Right Atrium	heart
19	chr17:43501800-43503000	Active TSS	Right Ventricle	heart
20	chr17:43501800-43503000	Active TSS	Small Intestine	intestine
21	chr17:43501800-43503200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr17:43501800-43504000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr17:43502000-43503200	Active TSS	Hela-S3	cervix
24	chr17:43502000-43503400	Active TSS	A549	lung
25	chr17:43502000-43503800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr17:43502200-43503000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr17:43502200-43503000	Flanking Active TSS	Placenta	Placenta
28	chr17:43502200-43503000	Active TSS	Gastric	stomach
29	chr17:43502200-43503200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:43502200-43503400	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr17:43502200-43503400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr17:43502200-43503400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr17:43502200-43503400	Flanking Active TSS	NHEK	skin
34	chr17:43502200-43503800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr17:43502400-43503000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr17:43502400-43503000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr17:43502400-43503000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr17:43502400-43503000	Enhancers	Primary B cells from cord blood	blood
39	chr17:43502400-43503000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:43502400-43503000	Enhancers	Lung	lung
41	chr17:43502400-43503200	Active TSS	Esophagus	oesophagus
42	chr17:43502400-43503200	Flanking Active TSS	HMEC	breast
43	chr17:43502400-43503400	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr17:43502400-43503400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr17:43502400-43503400	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr17:43502400-43508000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr17:43502600-43503000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
48	chr17:43502600-43503000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:43502600-43503000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr17:43502600-43503000	Enhancers	Primary B cells from peripheral blood	blood

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