Variant report

Variant	rs12489828
Chromosome Location	chr3:52567014-52567015
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:52566488-52567253	K562	blood:	n/a	n/a
2	TAF1	chr3:52566599-52567194	K562	blood:	n/a	n/a
3	POLR2A	chr3:52566966-52567850	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr3:52566395-52567119	GM12892	blood:	n/a	n/a
5	POLR2A	chr3:52566536-52568278	GM15510	blood:	n/a	n/a
6	HEY1	chr3:52566715-52567264	HepG2	liver:	n/a	chr3:52566862-52566877
7	CTCF	chr3:52566960-52567110	Hela-S3	cervix:	n/a	chr3:52566971-52566984 chr3:52566973-52566983 chr3:52566968-52566986
8	POLR2A	chr3:52565978-52567545	U87	brain:	n/a	n/a
9	POLR2A	chr3:52566436-52567064	GM12891	blood:	n/a	n/a
10	POLR2A	chr3:52566889-52567314	ECC-1	luminal epithelium:	n/a	n/a
11	MXI1	chr3:52566450-52569219	IMR90	lung:	n/a	n/a
12	POLR2A	chr3:52566494-52568343	GM12892	blood:	n/a	n/a
13	MAZ	chr3:52566456-52567198	K562	blood:	n/a	chr3:52566595-52566603
14	HEY1	chr3:52566941-52567246	K562	blood:	n/a	n/a
15	CCNT2	chr3:52566580-52568816	K562	blood:	n/a	chr3:52566977-52566986 chr3:52567974-52567983 chr3:52567185-52567194 chr3:52567981-52567990
16	NR2F2	chr3:52566461-52567061	K562	blood:	n/a	n/a
17	POLR2A	chr3:52566981-52567282	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr3:52566924-52567103	K562	blood:	n/a	chr3:52566971-52566984 chr3:52566973-52566983 chr3:52566968-52566986
19	UBTF	chr3:52566770-52567678	K562	blood:	n/a	n/a
20	POLR2A	chr3:52565799-52567472	HepG2	liver:	n/a	n/a
21	CREB1	chr3:52566388-52567054	HepG2	liver:	n/a	chr3:52566595-52566608
22	GABPA	chr3:52566874-52567301	H1-hESC	embryonic stem cell:	n/a	chr3:52566977-52566986
23	POLR2A	chr3:52566281-52567117	GM12878	blood:	n/a	n/a
24	HMGN3	chr3:52566706-52568905	K562	blood:	n/a	n/a
25	POLR2A	chr3:52566310-52567117	HepG2	liver:	n/a	n/a
26	POLR2A	chr3:52566562-52568130	GM12878	blood:	n/a	n/a
27	POLR2A	chr3:52566991-52567230	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAZ	chr3:52566933-52567132	HepG2	liver:	n/a	n/a
29	CTCF	chr3:52566880-52567030	HepG2	liver:	n/a	chr3:52566971-52566984 chr3:52566973-52566983 chr3:52566968-52566986
30	POLR2A	chr3:52565761-52567641	U87	brain:	n/a	n/a
31	UBTF	chr3:52566448-52567664	K562	blood:	n/a	n/a
32	PML	chr3:52566428-52567033	K562	blood:	n/a	n/a
33	RCOR1	chr3:52566552-52567125	K562	blood:	n/a	n/a
34	ETS1	chr3:52566904-52567181	K562	blood:	n/a	chr3:52567062-52567079 chr3:52566975-52566986
35	GABPA	chr3:52566543-52567397	K562	blood:	n/a	chr3:52566977-52566986
36	POLR2A	chr3:52566714-52569188	MCF-7	breast:	n/a	n/a
37	TBP	chr3:52566619-52567071	K562	blood:	n/a	n/a
38	HCFC1	chr3:52567010-52567200	K562	blood:	n/a	n/a
39	TCF12	chr3:52566715-52567405	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr3:52566443-52567289	K562	blood:	n/a	n/a
41	MXI1	chr3:52566581-52567064	GM12878	blood:	n/a	n/a
42	YY1	chr3:52566622-52567014	GM12878	blood:	n/a	chr3:52566978-52566989 chr3:52566977-52566986
43	TBP	chr3:52566919-52567419	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr3:52566584-52568241	GM18951	blood:	n/a	n/a
45	MAX	chr3:52566561-52567193	K562	blood:	n/a	chr3:52566595-52566603
46	POLR2A	chr3:52566150-52567589	HUVEC	blood vessel:	n/a	n/a
47	MAZ	chr3:52566465-52567568	GM12878	blood:	n/a	chr3:52566595-52566603
48	POLR2A	chr3:52565766-52567830	GM12878	blood:	n/a	n/a
49	POLR2A	chr3:52566449-52567190	GM12892	blood:	n/a	n/a
50	POLR2A	chr3:52566239-52567771	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:52567010-52567060	HCPEpiC	choroid plexus:	n/a
2	chr3:52567010-52567060	BE2_C	brain:	n/a
3	chr3:52567010-52567060	HAEpiC	amniotic membrane:	n/a
4	chr3:52567010-52567060	A549	lung:	n/a
5	chr3:52567010-52567060	Jurkat	blood:	n/a
6	chr3:52567010-52567060	GM12891	blood:	n/a
7	chr3:52567010-52567060	MCF-7	breast:	n/a
8	chr3:52567010-52567060	HL-60	blood:	n/a
9	chr3:52567010-52567060	HMEC	breast:	n/a
10	chr3:52567010-52567060	ECC-1	luminal epithelium:	n/a
11	chr3:52567010-52567060	HepG2	liver:	n/a
12	chr3:52567010-52567060	ProgFib	skin:	n/a
13	chr3:52567010-52567060	MCF10A-Er-Src	breast:	n/a
14	chr3:52567010-52567060	RPTEC	kidney:	n/a
15	chr3:52567010-52567060	SK-N-MC	brain:	n/a
16	chr3:52567010-52567060	GM19239	blood:	n/a
17	chr3:52567010-52567060	HNPCEpiC	eye:	n/a
18	chr3:52567010-52567060	NH-A	brain:	n/a
19	chr3:52567010-52567060	Hela-S3	cervix:	n/a
20	chr3:52567010-52567060	AG10803	skin:	n/a
21	chr3:52567010-52567060	HEEpiC	esophagus:	n/a
22	chr3:52567010-52567060	HRPEpiC	eye:	n/a
23	chr3:52567010-52567060	GM06990	blood:	n/a
24	chr3:52567010-52567060	K562	blood:	n/a
25	chr3:52567010-52567060	NT2-D1	testis:	n/a
26	chr3:52567010-52567060	NHBE	bronchial:	n/a
27	chr3:52567010-52567060	T-47D	breast:	n/a
28	chr3:52567010-52567060	HPAEpiC	pulmonary alveolar:	n/a
29	chr3:52567010-52567060	SK-N-SH_RA	brain:	n/a
30	chr3:52567010-52567060	PANC-1	pancreas:	n/a
31	chr3:52567010-52567060	HRE	kidney:	n/a
32	chr3:52567010-52567060	NHDF-neo	bronchial:	n/a
33	chr3:52567010-52567060	U87	brain:	n/a
34	chr3:52567010-52567060	HUVEC	blood vessel:	n/a
35	chr3:52567010-52567060	AG09309	skin:	n/a
36	chr3:52567010-52567060	Hepatocyte	liver:	n/a
37	chr3:52567010-52567060	PrEC	prostate:	n/a
38	chr3:52567010-52567060	Caco-2	colon:	n/a
39	chr3:52567010-52567060	CMK	blood:	n/a
40	chr3:52567010-52567060	HEK293	kidney:	embryo
41	chr3:52567010-52567060	HIPEpiC	eye:	n/a
42	chr3:52567010-52567060	HCF	heart:	n/a
43	chr3:52567010-52567060	AoSMC	blood vessel:	n/a
44	chr3:52567010-52567060	NB4	blood:	n/a
45	chr3:52567010-52567060	BJ	skin:	n/a
46	chr3:52567010-52567060	AG09319	gingival:	n/a
47	chr3:52567010-52567060	HCM	heart:	n/a
48	chr3:52567010-52567060	H1-hESC	embryonic stem cell:	embryo
49	chr3:52567010-52567060	IMR90	lung:	fetal
50	chr3:52567010-52567060	AG04450	lung:	fetal

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52554843..52559532-chr3:52566910..52570402,7	MCF-7	breast:
2	chr3:52566165..52568026-chr3:52648479..52651083,2	K562	blood:
3	chr3:52504515..52506973-chr3:52565446..52568302,2	MCF-7	breast:
4	chr3:52503525..52506168-chr3:52566167..52568849,2	MCF-7	breast:
5	chr3:52444067..52446922-chr3:52566590..52568238,2	K562	blood:
6	chr3:52566406..52569677-chr3:52718507..52721358,5	MCF-7	breast:
7	chr3:52311763..52314254-chr3:52566006..52568592,3	K562	blood:
8	chr3:52487897..52490713-chr3:52565636..52568320,3	K562	blood:

No data

Variant related genes	Relation type
NT5DC2	TF binding region
SMIM4	TF binding region
SMIM4	CpG island
NT5DC2	CpG island
ENSG00000163930	Chromatin interaction
ENSG00000010322	Chromatin interaction
ENSG00000010327	Chromatin interaction
ENSG00000168268	Chromatin interaction
ENSG00000163939	Chromatin interaction
ENSG00000114854	Chromatin interaction
ENSG00000163938	Chromatin interaction
ENSG00000010318	Chromatin interaction
ENSG00000164091	Chromatin interaction

Extended variants
information (count: 135 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs1010552	0.89[CHB][hapmap]
rs1010553	0.92[CEU][hapmap];0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1010554	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10510760	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10780035	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10865973	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs10865974	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1108842	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11130306	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11130310	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs11130312	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs11130315	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11130317	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11177	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs11235	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs1133415	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs11709284	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11711421	0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs11714419	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11714565	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11716747	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11720159	0.95[CHB][hapmap]
rs11720243	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12487445	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12487591	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12488461	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs12489732	0.94[ASN][1000 genomes]
rs12496634	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12635140	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs13059862	0.89[ASN][1000 genomes]
rs13060048	0.89[ASN][1000 genomes]
rs13063160	0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs13064064	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs13068293	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs13076398	0.93[ASN][1000 genomes]
rs13079063	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs13081028	0.87[CEU][hapmap];0.90[CHB][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13083798	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13085775	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs13085895	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs13303	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13621	0.91[ASN][1000 genomes]
rs1561337	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1570	0.90[ASN][1000 genomes]
rs17052256	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs17052259	0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs17264436	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs1821879	0.87[ASN][1000 genomes]
rs1866268	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1961958	0.90[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs1961959	0.86[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs2015971	0.81[CHB][hapmap]
rs2028216	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2079929	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2083180	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2118540	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs2164884	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2164885	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2251219	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2268027	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2276824	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2289247	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2289249	0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs2289250	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2336146	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2336149	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2577831	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2590838	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs28661185	0.88[ASN][1000 genomes]
rs2878628	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs33964154	0.90[ASN][1000 genomes]
rs33967311	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs34005367	0.93[ASN][1000 genomes]
rs34017441	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs35526119	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs3733039	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs3733041	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs3733045	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs3755798	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs3755806	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs3774365	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs3774366	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs3796353	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs3852066	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4234633	0.88[ASN][1000 genomes]
rs4282054	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4434138	0.87[ASN][1000 genomes]
rs4475032	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4687548	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs4687624	0.88[ASN][1000 genomes]
rs4687625	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs4687626	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4687629	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs4687638	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs62256903	0.93[ASN][1000 genomes]
rs6445528	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs6445534	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs6617	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs66782572	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66824127	0.92[EUR][1000 genomes]
rs67409736	0.87[EUR][1000 genomes]
rs6762813	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6778735	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6778844	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs6786043	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6786919	0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs6788887	0.89[ASN][1000 genomes]
rs6788993	0.89[ASN][1000 genomes]
rs6798246	0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs6804145	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6805156	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs6976	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs731831	0.90[CHB][hapmap]
rs7611731	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7614981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7622694	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7624716	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7636227	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7638808	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7652191	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs8906	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs9758945	0.85[ASN][1000 genomes]
rs9853056	0.92[CEU][hapmap];0.90[CHB][hapmap]
rs9879090	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers 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	117 gene(s)	inside rSNPs	diseases
2	nsv834697	chr3:52400578-52579417	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv876792	chr3:52430526-52575831	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh 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 target site	45 gene(s)	inside rSNPs	diseases
4	nsv876793	chr3:52450043-52584787	Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	esv1818902	chr3:52481406-52572056	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv590305	chr3:52535586-52569480	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv590307	chr3:52540773-52572056	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv876795	chr3:52544470-52572056	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv876796	chr3:52549676-52572056	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	esv3389739	chr3:52566962-52569135	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12489828	ENSG00000168268	cis	multi-tissue	Pritchard
rs12489828	NT5DC2	Cis_1M	lymphoblastoid	RTeQTL
rs12489828	FLJ12442	cis	multi-tissue	Pritchard
rs12489828	NT5DC2	cis	Skin Sun Exposed Lower leg	GTEx
rs12489828	NT5DC2	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52554800-52567200	Weak transcription	Aorta	Aorta
2	chr3:52564000-52567200	Enhancers	Spleen	Spleen
3	chr3:52565800-52567200	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr3:52566000-52567200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
5	chr3:52566000-52567200	Flanking Active TSS	Fetal Muscle Leg	muscle
6	chr3:52566000-52567200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr3:52566000-52567200	Enhancers	Stomach Mucosa	stomach
8	chr3:52566200-52567200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:52566200-52567200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr3:52566200-52567200	Flanking Active TSS	Fetal Intestine Small	intestine
11	chr3:52566200-52567200	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr3:52566200-52567600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr3:52566200-52569000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr3:52566200-52571600	Active TSS	Fetal Kidney	kidney
15	chr3:52566400-52567200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:52566400-52567200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr3:52566400-52567200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:52566400-52567200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:52566400-52567200	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr3:52566400-52568600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:52566400-52568600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:52566400-52569000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr3:52566600-52567200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:52566600-52567200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:52566600-52567200	Flanking Active TSS	Left Ventricle	heart
26	chr3:52566600-52567200	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr3:52566600-52567200	Flanking Active TSS	Thymus	Thymus
28	chr3:52566600-52567200	Flanking Active TSS	HMEC	breast
29	chr3:52566600-52567200	Flanking Active TSS	HSMM	muscle
30	chr3:52566600-52567400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr3:52566600-52567400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
32	chr3:52566600-52567400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:52566600-52567400	Enhancers	Liver	Liver
34	chr3:52566600-52567400	Flanking Active TSS	Gastric	stomach
35	chr3:52566600-52567400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
36	chr3:52566600-52567600	Flanking Active TSS	Colonic Mucosa	Colon
37	chr3:52566600-52567600	Flanking Active TSS	Placenta	Placenta
38	chr3:52566600-52567600	Flanking Active TSS	Right Ventricle	heart
39	chr3:52566600-52567800	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr3:52566600-52567800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:52566600-52568400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:52566600-52568400	Active TSS	Brain Angular Gyrus	brain
43	chr3:52566600-52568600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:52566600-52568600	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr3:52566600-52568600	Active TSS	A549	lung
46	chr3:52566600-52568800	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr3:52566800-52567200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr3:52566800-52567200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
49	chr3:52566800-52567200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
50	chr3:52566800-52567200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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