Variant report

Variant	rs2285043
Chromosome Location	chr3:50336055-50336056
allele	C/T
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	POLR2A	chr3:50335795-50338360	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:50335823-50336129	K562	blood:	n/a	n/a
3	POLR2A	chr3:50335828-50337929	HepG2	liver:	n/a	n/a
4	POLR2A	chr3:50336044-50338389	HepG2	liver:	n/a	n/a
5	POLR2A	chr3:50335773-50338119	K562	blood:	n/a	n/a
6	POLR2A	chr3:50335711-50338284	HL-60	blood:	n/a	n/a
7	POLR2A	chr3:50335760-50338326	HepG2	liver:	n/a	n/a
8	POLR2A	chr3:50336048-50337467	GM18505	blood:	n/a	n/a
9	CTCF	chr3:50335920-50336070	NHEK	skin:	n/a	n/a
10	HCFC1	chr3:50335896-50338321	Hela-S3	cervix:	n/a	n/a
11	RCOR1	chr3:50335885-50337415	K562	blood:	n/a	n/a
12	JUND	chr3:50335875-50337502	K562	blood:	n/a	chr3:50336924-50336936 chr3:50337233-50337242
13	POLR2A	chr3:50336046-50337860	GM12878	blood:	n/a	n/a
14	POLR2A	chr3:50335906-50338214	PBDE	blood:	n/a	n/a
15	MAZ	chr3:50335453-50338212	IMR90	lung:	n/a	chr3:50336440-50336450 chr3:50336380-50336390
16	POLR2A	chr3:50335799-50338338	K562	blood:	n/a	n/a
17	POLR2A	chr3:50336027-50337372	GM18526	blood:	n/a	n/a
18	POLR2A	chr3:50336037-50336916	GM12878	blood:	n/a	n/a
19	JUN	chr3:50335909-50338039	K562	blood:	n/a	chr3:50336924-50336936 chr3:50337233-50337242
20	CREB1	chr3:50335743-50338047	HepG2	liver:	n/a	n/a
21	EP300	chr3:50335787-50337477	K562	blood:	n/a	chr3:50336371-50336387 chr3:50337307-50337317
22	RUNX3	chr3:50336044-50336952	GM12878	blood:	n/a	n/a
23	POLR2A	chr3:50336013-50336930	GM12892	blood:	n/a	n/a
24	PML	chr3:50335985-50337478	GM12878	blood:	n/a	n/a
25	MYC	chr3:50335851-50338057	K562	blood:	n/a	chr3:50336440-50336450 chr3:50336380-50336390
26	POLR2A	chr3:50335995-50337805	PFSK-1	brain:	n/a	n/a
27	MAZ	chr3:50335866-50337617	K562	blood:	n/a	chr3:50336440-50336450 chr3:50336380-50336390
28	POLR2A	chr3:50335830-50337546	K562	blood:	n/a	n/a
29	POLR2A	chr3:50335522-50338640	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr3:50335846-50337834	IMR90	lung:	n/a	n/a
31	POLR2A	chr3:50335462-50341765	HepG2	liver:	n/a	n/a
32	MAX	chr3:50335775-50338133	NB4	blood:	n/a	chr3:50336440-50336450 chr3:50336380-50336390
33	SMARCB1	chr3:50335706-50337376	Hela-S3	cervix:	n/a	n/a
34	MTA3	chr3:50335899-50336969	GM12878	blood:	n/a	n/a
35	POLR2A	chr3:50336044-50337281	MCF-7	breast:	n/a	n/a
36	MXI1	chr3:50335983-50338257	SK-N-SH	brain:	n/a	n/a
37	MAX	chr3:50335791-50336080	K562	blood:	n/a	n/a
38	POLR2A	chr3:50335344-50337506	GM12878	blood:	n/a	n/a
39	POLR2A	chr3:50335787-50338047	K562	blood:	n/a	n/a
40	SPI1	chr3:50335788-50336544	HL-60	blood:	n/a	chr3:50336101-50336114
41	HEY1	chr3:50336023-50337782	HepG2	liver:	n/a	chr3:50337232-50337241 chr3:50337234-50337243
42	ELF1	chr3:50335737-50337413	GM12878	blood:	n/a	chr3:50336324-50336336
43	MYC	chr3:50335564-50338128	NB4	blood:	n/a	chr3:50336440-50336450 chr3:50336380-50336390
44	GATA1	chr3:50334897-50337516	PBDE	blood:	n/a	chr3:50335938-50335948 chr3:50335938-50335945
45	ZEB1	chr3:50335950-50336836	GM12878	blood:	n/a	chr3:50336247-50336254 chr3:50336119-50336126
46	CCNT2	chr3:50335842-50337339	K562	blood:	n/a	chr3:50336914-50336923 chr3:50336204-50336213
47	IRF1	chr3:50335763-50337365	K562	blood:	n/a	chr3:50337063-50337077 chr3:50336894-50336908 chr3:50336379-50336393 chr3:50336963-50336977 chr3:50337094-50337108
48	RELA	chr3:50336027-50336896	GM18951	blood:	n/a	n/a
49	POLR2A	chr3:50336049-50338168	K562	blood:	n/a	n/a
50	MXI1	chr3:50335649-50338097	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:50308810..50310913-chr3:50335251..50336783,2	MCF-7	breast:
2	chr3:50296030..50318456-chr3:50318822..50339499,66	MCF-7	breast:
3	chr3:50334511..50339320-chr3:50364012..50367102,8	MCF-7	breast:
4	chr3:50335402..50338508-chr3:50371973..50376083,5	K562	blood:
5	chr3:50310399..50313142-chr3:50335615..50338582,3	K562	blood:
6	chr3:50327926..50342388-chr3:50350886..50359960,36	MCF-7	breast:
7	chr3:50324564..50342616-chr3:50350801..50362499,49	MCF-7	breast:
8	chr3:50334885..50342502-chr3:50352987..50366859,26	K562	blood:
9	chr3:50295925..50299690-chr3:50335868..50338319,4	K562	blood:
10	chr3:50333907..50338508-chr3:50371973..50376030,7	K562	blood:
11	chr3:50297731..50299690-chr3:50335668..50338319,3	K562	blood:
12	chr3:50333563..50336094-chr3:50386873..50389104,2	MCF-7	breast:
13	chr3:50335131..50340487-chr3:50360694..50367461,13	K562	blood:
14	chr3:50335266..50337009-chr6:27114656..27117147,2	K562	blood:
15	chr3:50334334..50341950-chr3:50357130..50360296,11	K562	blood:
16	chr3:50272615..50275191-chr3:50335158..50337593,2	MCF-7	breast:

Variant related genes	Relation type
HYAL3	TF binding region
ENSG00000179564	Chromatin interaction
ENSG00000114383	Chromatin interaction
ENSG00000068028	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000114395	Chromatin interaction
ENSG00000114353	Chromatin interaction
ENSG00000114388	Chromatin interaction
ENSG00000232352	Chromatin interaction
ENSG00000230454	Chromatin interaction
ENSG00000068001	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000272104	Chromatin interaction
ENSG00000012171	Chromatin interaction

Extended variants
information (count: 130 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1005678	0.81[CHB][hapmap]
rs11130248	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12054052	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12054403	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12485286	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12485390	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12485909	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12487392	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12488235	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12488302	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12490809	0.90[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12490837	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12492683	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12492880	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12493693	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12494414	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12495261	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12496815	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12497018	0.92[ASN][1000 genomes]
rs12498048	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12629572	0.84[CHD][hapmap];0.82[YRI][hapmap]
rs12632110	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap]
rs12721544	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1989839	0.84[CHD][hapmap]
rs2006199	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2021734	0.81[AMR][1000 genomes]
rs2071203	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071204	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2071205	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2071801	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2071804	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2072053	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2072054	0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2073497	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2073499	0.84[CHD][hapmap]
rs2073500	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2229647	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2233474	0.84[CHD][hapmap]
rs2233476	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2236940	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2236941	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2236943	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2236944	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2236946	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2236949	0.88[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2236950	0.81[CHD][hapmap];0.83[JPT][hapmap]
rs2269430	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2269432	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2269568	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2269569	0.83[ASN][1000 genomes]
rs2282750	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2282751	0.84[CHD][hapmap]
rs2285044	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2298953	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2298954	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2624839	0.84[CHD][hapmap]
rs3213621	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35455589	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35587949	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3774736	0.82[EUR][1000 genomes]
rs3774739	0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.90[MEX][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774741	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774748	0.87[AMR][1000 genomes]
rs3774752	0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774753	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.99[ASN][1000 genomes]
rs3774754	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3774755	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4141060	0.81[CHD][hapmap]
rs4141407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4688679	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4688682	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4688683	0.82[EUR][1000 genomes]
rs4688724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4688725	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4688728	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4688732	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4688733	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4688734	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4688736	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4688738	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4688741	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4688742	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4688743	0.85[AMR][1000 genomes]
rs4688744	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4688746	0.85[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4688747	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57944420	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57978992	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58137261	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58181992	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58191283	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58648044	0.87[ASN][1000 genomes]
rs60276643	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6776145	0.84[CHD][hapmap];0.82[YRI][hapmap]
rs72932959	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72932987	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7645537	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9311449	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9681992	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9830408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9852677	0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs9882618	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9883222	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv1013949	chr3:50151712-50339163	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription 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	94 gene(s)	inside rSNPs	diseases
4	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
5	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
6	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
7	nsv590251	chr3:50158774-50337422	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription 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	99 gene(s)	inside rSNPs	diseases
9	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
10	nsv523560	chr3:50172397-50339163	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	53 gene(s)	inside rSNPs	diseases
11	nsv1014256	chr3:50187646-50339163	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active 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	53 gene(s)	inside rSNPs	diseases
12	nsv536565	chr3:50187646-50339163	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	104 gene(s)	inside rSNPs	diseases
14	nsv590253	chr3:50196418-50337422	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
15	esv2757870	chr3:50198478-50371377	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
16	esv2759148	chr3:50198478-50371377	Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	74 gene(s)	inside rSNPs	diseases
17	nsv834692	chr3:50198485-50393464	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
18	nsv590254	chr3:50243510-50388607	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
19	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
20	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
21	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers 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	93 gene(s)	inside rSNPs	diseases
22	nsv590257	chr3:50302830-50393640	Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription 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	82 gene(s)	inside rSNPs	diseases
23	nsv590256	chr3:50302830-50420554	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic 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 miRNA target site	83 gene(s)	inside rSNPs	diseases
24	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
25	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
26	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
27	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2285043	HEMK1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50332400-50336600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:50335000-50336200	Flanking Active TSS	Hela-S3	cervix
3	chr3:50335200-50336400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:50335200-50336600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:50335200-50338000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:50335400-50336200	Flanking Active TSS	Fetal Brain Female	brain
7	chr3:50335400-50336200	Flanking Active TSS	K562	blood
8	chr3:50335400-50336400	Flanking Active TSS	Brain Angular Gyrus	brain
9	chr3:50335400-50336600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr3:50335400-50336600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr3:50335400-50336600	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr3:50335600-50336200	Enhancers	Lung	lung
13	chr3:50335600-50336200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr3:50335600-50336200	Flanking Active TSS	GM12878-XiMat	blood
15	chr3:50335600-50336400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr3:50335600-50336400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:50335600-50336400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:50335600-50336400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:50335600-50336400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr3:50335600-50336400	Flanking Active TSS	HMEC	breast
21	chr3:50335600-50336400	Flanking Active TSS	NHEK	skin
22	chr3:50335600-50336400	Flanking Active TSS	NHLF	lung
23	chr3:50335600-50336600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr3:50335600-50336600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr3:50335600-50336600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr3:50335600-50336600	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr3:50335600-50336600	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr3:50335600-50336600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr3:50335600-50336800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr3:50335600-50336800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:50335600-50336800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr3:50335600-50336800	Flanking Active TSS	Dnd41	blood
33	chr3:50335600-50336800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr3:50335600-50337200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:50335600-50337400	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr3:50335800-50336200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
37	chr3:50335800-50336200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:50335800-50336200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:50335800-50336200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:50335800-50336200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr3:50335800-50336200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:50335800-50336200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr3:50335800-50336200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr3:50335800-50336200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:50335800-50336200	Flanking Active TSS	Esophagus	oesophagus
46	chr3:50335800-50336200	Flanking Active TSS	Gastric	stomach
47	chr3:50335800-50336200	Flanking Active TSS	NHDF-Ad	bronchial
48	chr3:50335800-50336400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:50335800-50336400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:50335800-50336400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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