Variant report

Variant	rs2270616
Chromosome Location	chr1:247267668-247267669
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:542)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:247267204-247267890	HL-60	blood:	n/a	n/a
2	SMC3	chr1:247267662-247267791	K562	blood:	n/a	n/a
3	POLR2A	chr1:247267119-247267917	GM12878	blood:	n/a	n/a
4	ATF3	chr1:247267466-247267904	K562	blood:	n/a	chr1:247267801-247267810
5	POLR2A	chr1:247267312-247267950	ProgFib	skin:	n/a	n/a
6	MAFK	chr1:247267411-247267853	Hela-S3	cervix:	n/a	n/a
7	YY1	chr1:247267191-247267946	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr1:247267404-247267895	K562	blood:	n/a	n/a
9	BHLHE40	chr1:247267599-247267929	HepG2	liver:	n/a	chr1:247267799-247267812
10	SIN3AK20	chr1:247267349-247267901	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3AK20	chr1:247267401-247267875	PFSK-1	brain:	n/a	n/a
12	MYC	chr1:247267280-247267946	MCF10A-Er-Src	breast:	n/a	chr1:247267801-247267810
13	BHLHE40	chr1:247267607-247268011	HepG2	liver:	n/a	chr1:247267799-247267812
14	MAZ	chr1:247267136-247267939	Hela-S3	cervix:	n/a	chr1:247267801-247267810
15	POLR2A	chr1:247267120-247267870	HepG2	liver:	n/a	n/a
16	USF1	chr1:247267573-247267908	A549	lung:	n/a	chr1:247267799-247267812
17	GATA3	chr1:247267370-247268014	T-47D	breast:	n/a	n/a
18	POLR2A	chr1:247267053-247267973	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr1:247267170-247267984	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:247267088-247267914	GM18526	blood:	n/a	n/a
21	POLR2A	chr1:247267286-247267760	GM12891	blood:	n/a	n/a
22	NRF1	chr1:247267645-247267870	K562	blood:	n/a	n/a
23	POLR2A	chr1:247267312-247267910	GM12892	blood:	n/a	n/a
24	GABPA	chr1:247267074-247267915	H1-hESC	embryonic stem cell:	n/a	n/a
25	ELF1	chr1:247266968-247268010	K562	blood:	n/a	chr1:247267677-247267688 chr1:247267678-247267687
26	BHLHE40	chr1:247267601-247268041	A549	lung:	n/a	chr1:247267799-247267812
27	PML	chr1:247267292-247267993	K562	blood:	n/a	n/a
28	ESR1	chr1:247267516-247267982	ECC-1	luminal epithelium:	n/a	chr1:247267818-247267833 chr1:247267818-247267835
29	JUN	chr1:247267576-247267972	K562	blood:	n/a	chr1:247267812-247267825
30	POLR2A	chr1:247267288-247267907	PBDE	blood:	n/a	n/a
31	RAD21	chr1:247267446-247267802	HepG2	liver:	n/a	n/a
32	MAFK	chr1:247267495-247267950	K562	blood:	n/a	n/a
33	YY1	chr1:247267086-247267938	K562	blood:	n/a	n/a
34	GATA3	chr1:247267449-247268020	T-47D	breast:	n/a	n/a
35	TAF1	chr1:247267402-247267859	SK-N-SH	brain:	n/a	n/a
36	TAF1	chr1:247267424-247267768	GM12892	blood:	n/a	n/a
37	ZNF143	chr1:247267622-247267808	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr1:247267163-247267954	HepG2	liver:	n/a	chr1:247267801-247267810
39	ELK4	chr1:247267152-247267901	Hela-S3	cervix:	n/a	chr1:247267678-247267689
40	HEY1	chr1:247266961-247268088	HepG2	liver:	n/a	n/a
41	ATF2	chr1:247267382-247268056	GM12878	blood:	n/a	n/a
42	TAF1	chr1:247267482-247267775	GM12891	blood:	n/a	n/a
43	RCOR1	chr1:247267334-247267986	GM12878	blood:	n/a	n/a
44	CREB1	chr1:247267149-247268523	H1-hESC	embryonic stem cell:	n/a	n/a
45	EP300	chr1:247267348-247267829	A549	lung:	n/a	n/a
46	GATA1	chr1:247267503-247267960	K562	blood:	n/a	n/a
47	SP2	chr1:247267594-247267866	K562	blood:	n/a	n/a
48	CEBPB	chr1:247267318-247267973	ECC-1	luminal epithelium:	n/a	n/a
49	SIN3AK20	chr1:247267045-247267927	K562	blood:	n/a	n/a
50	POLR2A	chr1:247267402-247267869	HCT-116	colon:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:247267644-247267694	A549	lung:	n/a
2	chr1:247267644-247267694	AG10803	skin:	n/a
3	chr1:247267644-247267694	AG04449	skin:	fetal
4	chr1:247267644-247267694	Hepatocyte	liver:	n/a
5	chr1:247267644-247267694	GM12892	blood:	n/a
6	chr1:247267644-247267694	HCT-116	colon:	n/a
7	chr1:247267644-247267694	SK-N-SH_RA	brain:	n/a
8	chr1:247267644-247267694	NH-A	brain:	n/a
9	chr1:247267644-247267694	GM12891	blood:	n/a
10	chr1:247267644-247267694	SK-N-SH	brain:	n/a
11	chr1:247267644-247267694	K562	blood:	n/a
12	chr1:247267644-247267694	SKMC	muscle:	n/a
13	chr1:247267644-247267694	ovcar-3	ovarian:	n/a
14	chr1:247267644-247267694	NHBE	bronchial:	n/a
15	chr1:247267644-247267694	HAEpiC	amniotic membrane:	n/a
16	chr1:247267644-247267694	Hela-S3	cervix:	n/a
17	chr1:247267644-247267694	HIPEpiC	eye:	n/a
18	chr1:247267644-247267694	ProgFib	skin:	n/a
19	chr1:247267644-247267694	HUVEC	blood vessel:	n/a
20	chr1:247267644-247267694	RPTEC	kidney:	n/a
21	chr1:247267644-247267694	HepG2	liver:	n/a
22	chr1:247267644-247267694	HPAEpiC	pulmonary alveolar:	n/a
23	chr1:247267644-247267694	SK-N-MC	brain:	n/a
24	chr1:247267644-247267694	HRCEpiC	kidney:	n/a
25	chr1:247267644-247267694	PANC-1	pancreas:	n/a
26	chr1:247267644-247267694	AoSMC	blood vessel:	n/a
27	chr1:247267644-247267694	HRE	kidney:	n/a
28	chr1:247267644-247267694	HCF	heart:	n/a
29	chr1:247267644-247267694	HEEpiC	esophagus:	n/a
30	chr1:247267644-247267694	GM12878	blood:	n/a
31	chr1:247267644-247267694	HCM	heart:	n/a
32	chr1:247267644-247267694	H1-hESC	embryonic stem cell:	embryo
33	chr1:247267644-247267694	BJ	skin:	n/a
34	chr1:247267644-247267694	Jurkat	blood:	n/a
35	chr1:247267644-247267694	MCF-7	breast:	n/a
36	chr1:247267644-247267694	PrEC	prostate:	n/a
37	chr1:247267644-247267694	AG04450	lung:	fetal
38	chr1:247267644-247267694	CMK	blood:	n/a
39	chr1:247267644-247267694	AG09319	gingival:	n/a
40	chr1:247267644-247267694	HRPEpiC	eye:	n/a
41	chr1:247267644-247267694	LNCaP	prostate:	n/a
42	chr1:247267644-247267694	GM06990	blood:	n/a
43	chr1:247267644-247267694	Caco-2	colon:	n/a
44	chr1:247267644-247267694	T-47D	breast:	n/a
45	chr1:247267644-247267694	ECC-1	luminal epithelium:	n/a
46	chr1:247267644-247267694	MCF10A-Er-Src	breast:	n/a
47	chr1:247267644-247267694	NT2-D1	testis:	n/a
48	chr1:247267644-247267694	HNPCEpiC	eye:	n/a
49	chr1:247267644-247267694	GM19239	blood:	n/a
50	chr1:247267644-247267694	IMR90	lung:	fetal

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247266988..247268956-chr1:247494459..247496057,2	MCF-7	breast:
2	chr1:247240434..247242888-chr1:247264757..247270232,6	K562	blood:
3	chr1:247262370..247270931-chr1:247272613..247278774,19	MCF-7	breast:
4	chr1:247240729..247243451-chr1:247267537..247269103,3	MCF-7	breast:
5	chr1:247249215..247251294-chr1:247266275..247268905,2	MCF-7	breast:
6	chr1:247092719..247096472-chr1:247266171..247268660,3	MCF-7	breast:
7	chr1:247239357..247243782-chr1:247265039..247269405,6	MCF-7	breast:
8	chr1:247169768..247172852-chr1:247266315..247269719,3	K562	blood:
9	chr1:247236513..247243563-chr1:247264600..247268970,10	K562	blood:
10	chr1:247093046..247095250-chr1:247265472..247268873,4	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF669	TF binding region
ZNF669	CpG island
ENSG00000162714	Chromatin interaction
ENSG00000228982	Chromatin interaction
ENSG00000153207	Chromatin interaction
ENSG00000197472	Chromatin interaction
ENSG00000135747	Chromatin interaction
ENSG00000221953	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1007457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10493861	0.90[CHB][hapmap]
rs10754536	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10802463	0.81[ASN][1000 genomes]
rs10802466	1.00[CHB][hapmap];0.86[CHD][hapmap];0.87[ASN][1000 genomes]
rs10802468	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10802469	0.98[ASN][1000 genomes]
rs10924907	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10924909	0.91[ASN][1000 genomes]
rs10924910	0.89[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10924912	0.97[ASN][1000 genomes]
rs10924914	0.98[ASN][1000 genomes]
rs10924915	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10924917	1.00[ASN][1000 genomes]
rs10924919	1.00[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs10924924	0.83[ASN][1000 genomes]
rs11801681	0.85[ASN][1000 genomes]
rs12058648	0.81[ASN][1000 genomes]
rs12080836	1.00[ASN][1000 genomes]
rs12084753	0.91[ASN][1000 genomes]
rs12093759	0.90[CHB][hapmap]
rs12094740	0.91[ASN][1000 genomes]
rs12119007	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs12119918	0.98[ASN][1000 genomes]
rs12120049	0.83[ASN][1000 genomes]
rs12121338	0.82[ASN][1000 genomes]
rs12121363	0.85[ASN][1000 genomes]
rs12127349	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12128943	0.85[ASN][1000 genomes]
rs12129591	0.81[ASN][1000 genomes]
rs12131094	0.85[ASN][1000 genomes]
rs12133296	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12133763	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs12138526	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12138686	0.98[ASN][1000 genomes]
rs12140983	0.81[ASN][1000 genomes]
rs12141797	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12141826	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs12142274	0.82[ASN][1000 genomes]
rs12144733	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12144854	0.85[ASN][1000 genomes]
rs12691533	0.92[ASN][1000 genomes]
rs12723583	0.81[ASN][1000 genomes]
rs12751386	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13376442	0.91[ASN][1000 genomes]
rs1552988	0.91[ASN][1000 genomes]
rs1874407	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs192432	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2055190	0.89[ASN][1000 genomes]
rs2172795	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs2379192	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2379193	0.91[ASN][1000 genomes]
rs2890101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2890102	0.91[ASN][1000 genomes]
rs2890103	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2890104	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2890105	0.91[ASN][1000 genomes]
rs2890106	0.91[ASN][1000 genomes]
rs34273666	0.91[ASN][1000 genomes]
rs34350972	0.91[ASN][1000 genomes]
rs35314391	0.91[ASN][1000 genomes]
rs35452630	0.91[ASN][1000 genomes]
rs35511369	0.91[ASN][1000 genomes]
rs3736325	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3806269	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3844079	0.90[CHB][hapmap]
rs3844080	0.90[CHB][hapmap]
rs3892246	0.91[ASN][1000 genomes]
rs3892516	0.91[ASN][1000 genomes]
rs41305955	0.88[ASN][1000 genomes]
rs4925692	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4925701	0.83[ASN][1000 genomes]
rs4925702	0.85[ASN][1000 genomes]
rs4925703	0.83[ASN][1000 genomes]
rs4925704	0.85[ASN][1000 genomes]
rs4925711	0.82[ASN][1000 genomes]
rs4925715	0.82[ASN][1000 genomes]
rs55649449	0.88[ASN][1000 genomes]
rs57003817	0.91[ASN][1000 genomes]
rs60293371	0.91[ASN][1000 genomes]
rs60677310	0.91[ASN][1000 genomes]
rs60794525	0.91[ASN][1000 genomes]
rs6426209	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6426217	0.85[ASN][1000 genomes]
rs6426218	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6426220	0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs6658298	0.89[ASN][1000 genomes]
rs6659256	0.91[ASN][1000 genomes]
rs6664157	0.87[ASN][1000 genomes]
rs6669242	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6675536	0.90[CHB][hapmap]
rs6680033	0.85[ASN][1000 genomes]
rs6681227	0.92[ASN][1000 genomes]
rs6685921	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6693464	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6695894	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6699898	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6700824	0.82[ASN][1000 genomes]
rs6702419	0.92[ASN][1000 genomes]
rs7412787	0.89[ASN][1000 genomes]
rs7521596	0.90[CHB][hapmap]
rs7528817	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7549674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9793102	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv535417	chr1:247094131-247409000	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
6	nsv1005639	chr1:247094161-247401380	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
7	nsv535418	chr1:247094161-247401380	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
8	nsv999879	chr1:247112207-247276918	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv916236	chr1:247124353-247409065	Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
10	nsv948419	chr1:247130577-247400404	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
11	nsv1012616	chr1:247173851-247365588	Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
12	nsv535420	chr1:247173851-247365588	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
13	nsv1002438	chr1:247173851-247401380	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
14	nsv999352	chr1:247180668-247307074	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv535421	chr1:247180668-247307074	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	nsv997687	chr1:247180668-247348847	Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv535422	chr1:247180668-247348847	ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv427974	chr1:247184802-247352964	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	esv3336179	chr1:247195262-247373269	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
20	nsv1014012	chr1:247207932-247289138	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
21	nsv873428	chr1:247226986-247346189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
22	nsv873429	chr1:247230809-247288469	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv549547	chr1:247233156-247281769	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	nsv873430	chr1:247233156-247291400	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv873431	chr1:247242836-247297502	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs2270616	ZNF669	cis	Nerve Tibial	GTEx
rs2270616	LOC149134	cis	parietal	SCAN
rs2270616	ZNF669	cis	cerebellum	SCAN
rs2270616	MKNK2	trans	parietal	SCAN
rs2270616	ZNF669	cis	Muscle Skeletal	GTEx
rs2270616	ZNF669	cis	brain	BrainEAC
rs2270616	ZNF669	cis	parietal	SCAN
rs2270616	ZNF124	cis	parietal	SCAN
rs2270616	LOC149134	cis	cerebellum	SCAN
rs2270616	ZNF124	cis	lymphoblastoid	seeQTL
rs2270616	ZNF124	cis	cerebellum	SCAN
rs2270616	ZNF670	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247265600-247268600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:247265800-247268400	Active TSS	Psoas Muscle	Psoas
3	chr1:247266000-247268200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:247266000-247269000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:247266200-247267800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:247266200-247268200	Active TSS	H1 Cell Line	embryonic stem cell
7	chr1:247266200-247268200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:247266200-247268200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:247266200-247268200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:247266200-247268200	Active TSS	HMEC	breast
11	chr1:247266200-247268400	Active TSS	HSMMtube	muscle
12	chr1:247266200-247268600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr1:247266200-247269000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:247266400-247267800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:247266400-247267800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:247266400-247268200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr1:247266400-247268200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:247266400-247268200	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr1:247266400-247268200	Active TSS	Right Ventricle	heart
20	chr1:247266400-247268600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:247266400-247268600	Active TSS	Brain Angular Gyrus	brain
22	chr1:247266400-247268800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:247266400-247268800	Active TSS	Brain Hippocampus Middle	brain
24	chr1:247266600-247267800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:247266600-247267800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:247266600-247267800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:247266600-247267800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:247266600-247267800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:247266600-247267800	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr1:247266600-247267800	Active TSS	HSMM	muscle
31	chr1:247266600-247267800	Active TSS	NH-A	brain
32	chr1:247266600-247268000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:247266600-247268000	Active TSS	Fetal Intestine Large	intestine
34	chr1:247266600-247268000	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr1:247266600-247268000	Active TSS	A549	lung
36	chr1:247266600-247268200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:247266600-247268200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:247266600-247268200	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr1:247266600-247268200	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr1:247266600-247268200	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr1:247266600-247268200	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr1:247266600-247268200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr1:247266600-247268200	Active TSS	Brain Cingulate Gyrus	brain
44	chr1:247266600-247268200	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr1:247266600-247268200	Active TSS	Fetal Intestine Small	intestine
46	chr1:247266600-247268200	Active TSS	Fetal Lung	lung
47	chr1:247266600-247268200	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr1:247266600-247268200	Active TSS	K562	blood
49	chr1:247266600-247268400	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr1:247266600-247268400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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