Variant report

Variant	rs483030
Chromosome Location	chr11:57566850-57566851
allele	A/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	EP300	chr11:57566590-57566979	SK-N-SH_RA	brain:	n/a	chr11:57566652-57566661
2	RAD21	chr11:57566553-57567066	SK-N-SH_RA	brain:	n/a	n/a
3	TCF12	chr11:57566374-57567049	A549	lung:	n/a	n/a
4	SMC3	chr11:57566712-57567104	HepG2	liver:	n/a	n/a
5	SIN3AK20	chr11:57566232-57567242	HCT-116	colon:	n/a	n/a
6	FOS	chr11:57566319-57566958	MCF10A-Er-Src	breast:	n/a	chr11:57566601-57566613 chr11:57566651-57566660 chr11:57566602-57566612 chr11:57566599-57566610 chr11:57566602-57566612 chr11:57566603-57566611 chr11:57566602-57566612 chr11:57566602-57566612
7	TCF12	chr11:57566430-57567177	ECC-1	luminal epithelium:	n/a	n/a
8	MYC	chr11:57566361-57567190	MCF10A-Er-Src	breast:	n/a	chr11:57566690-57566699 chr11:57566652-57566661
9	ELF1	chr11:57566532-57567074	K562	blood:	n/a	chr11:57566778-57566791
10	FOSL1	chr11:57566293-57567138	HCT-116	colon:	n/a	chr11:57566601-57566613 chr11:57566651-57566660 chr11:57566602-57566612 chr11:57566599-57566610 chr11:57566602-57566612 chr11:57566603-57566611 chr11:57566602-57566612 chr11:57566602-57566612
11	USF2	chr11:57566810-57566939	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:57566553-57567106	K562	blood:	n/a	n/a
13	MAFF	chr11:57566842-57567023	HepG2	liver:	n/a	n/a
14	BRCA1	chr11:57566539-57567031	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr11:57566462-57566867	Hela-S3	cervix:	n/a	n/a
16	JUND	chr11:57566173-57567266	HCT-116	colon:	n/a	chr11:57566601-57566613 chr11:57566651-57566660 chr11:57566602-57566612 chr11:57566599-57566610 chr11:57566650-57566661 chr11:57566602-57566612 chr11:57566603-57566611 chr11:57566601-57566612 chr11:57566602-57566612 chr11:57566602-57566612
17	USF2	chr11:57566381-57566891	Hela-S3	cervix:	n/a	chr11:57566646-57566657
18	POLR2A	chr11:57566506-57566865	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:57566299-57567183	GM12878	blood:	n/a	n/a
20	MAFK	chr11:57566691-57566908	HepG2	liver:	n/a	n/a
21	ELF1	chr11:57566353-57567261	HCT-116	colon:	n/a	chr11:57566778-57566791
22	NFIC	chr11:57566508-57567172	ECC-1	luminal epithelium:	n/a	n/a
23	SPI1	chr11:57566591-57566957	GM12878	blood:	n/a	chr11:57566779-57566792 chr11:57566780-57566789 chr11:57566778-57566791
24	FOSL2	chr11:57566405-57566879	HepG2	liver:	n/a	chr11:57566601-57566613 chr11:57566651-57566660 chr11:57566602-57566612 chr11:57566599-57566610 chr11:57566602-57566612 chr11:57566603-57566611 chr11:57566602-57566612 chr11:57566602-57566612
25	SMC3	chr11:57566391-57566999	Hela-S3	cervix:	n/a	n/a
26	RAD21	chr11:57566242-57567275	HCT-116	colon:	n/a	n/a
27	EGR1	chr11:57566668-57566989	K562	blood:	n/a	n/a
28	NR2F2	chr11:57566216-57567156	MCF-7	breast:	n/a	chr11:57566491-57566506
29	EGR1	chr11:57566375-57567210	HCT-116	colon:	n/a	n/a
30	CBX3	chr11:57566252-57567249	HCT-116	colon:	n/a	n/a
31	MAX	chr11:57566353-57567197	HCT-116	colon:	n/a	chr11:57566690-57566699 chr11:57566652-57566661
32	USF1	chr11:57566385-57567179	HCT-116	colon:	n/a	n/a
33	FOS	chr11:57566394-57566993	MCF10A-Er-Src	breast:	n/a	chr11:57566601-57566613 chr11:57566651-57566660 chr11:57566602-57566612 chr11:57566599-57566610 chr11:57566602-57566612 chr11:57566603-57566611 chr11:57566602-57566612 chr11:57566602-57566612
34	SPI1	chr11:57566517-57567067	HL-60	blood:	n/a	chr11:57566779-57566792 chr11:57566780-57566789 chr11:57566778-57566791
35	SPI1	chr11:57566659-57566908	K562	blood:	n/a	chr11:57566779-57566792 chr11:57566780-57566789 chr11:57566778-57566791
36	MYC	chr11:57566439-57566864	K562	blood:	n/a	chr11:57566690-57566699 chr11:57566652-57566661
37	TBL1XR1	chr11:57566498-57566864	K562	blood:	n/a	n/a
38	GATA3	chr11:57566552-57567110	T-47D	breast:	n/a	chr11:57566604-57566613 chr11:57566601-57566610
39	MAX	chr11:57566520-57566994	MCF-7	breast:	n/a	chr11:57566690-57566699 chr11:57566652-57566661
40	SP1	chr11:57566274-57567318	HCT-116	colon:	n/a	chr11:57566813-57566823
41	EP300	chr11:57566663-57567112	T-47D	breast:	n/a	n/a
42	CBX3	chr11:57566273-57567213	HCT-116	colon:	n/a	n/a
43	FOXA1	chr11:57566726-57567119	T-47D	breast:	n/a	n/a
44	JUND	chr11:57566428-57566942	K562	blood:	n/a	chr11:57566601-57566613 chr11:57566651-57566660 chr11:57566602-57566612 chr11:57566599-57566610 chr11:57566650-57566661 chr11:57566602-57566612 chr11:57566603-57566611 chr11:57566601-57566612 chr11:57566602-57566612 chr11:57566602-57566612
45	USF1	chr11:57566326-57567097	HCT-116	colon:	n/a	n/a
46	GATA2	chr11:57566681-57567044	HUVEC	blood vessel:	n/a	n/a
47	FOS	chr11:57566326-57567004	MCF10A-Er-Src	breast:	n/a	chr11:57566601-57566613 chr11:57566651-57566660 chr11:57566602-57566612 chr11:57566599-57566610 chr11:57566602-57566612 chr11:57566603-57566611 chr11:57566602-57566612 chr11:57566602-57566612
48	POLR2A	chr11:57566309-57567149	HCT-116	colon:	n/a	n/a
49	FOSL2	chr11:57566385-57566878	MCF-7	breast:	n/a	chr11:57566601-57566613 chr11:57566651-57566660 chr11:57566602-57566612 chr11:57566599-57566610 chr11:57566602-57566612 chr11:57566603-57566611 chr11:57566602-57566612 chr11:57566602-57566612
50	USF1	chr11:57566512-57566875	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57508686..57513679-chr11:57564628..57569734,7	K562	blood:
2	chr11:57555253..57557894-chr11:57565432..57567473,2	MCF-7	breast:
3	chr11:57510465..57513227-chr11:57564022..57568202,4	K562	blood:
4	chr11:57527835..57531502-chr11:57565390..57568379,5	MCF-7	breast:
5	chr11:57545030..57547537-chr11:57565376..57568397,5	MCF-7	breast:
6	chr11:57560773..57562885-chr11:57566656..57568197,2	K562	blood:
7	chr11:57481010..57482984-chr11:57566572..57568225,2	K562	blood:
8	chr11:57517600..57521846-chr11:57565397..57568354,3	K562	blood:
9	chr11:57561787..57564365-chr11:57565479..57568145,2	MCF-7	breast:
10	chr11:57478662..57480739-chr11:57566595..57568293,2	MCF-7	breast:
11	chr11:57527376..57533264-chr11:57564914..57570096,15	MCF-7	breast:
12	chr11:57546790..57549756-chr11:57565706..57567444,2	MCF-7	breast:
13	chr11:57566631..57568221-chr11:57574767..57576938,2	K562	blood:

Variant related genes	Relation type
CTNND1	TF binding region
ENSG00000213593	Chromatin interaction
ENSG00000156603	Chromatin interaction
ENSG00000211450	Chromatin interaction
ENSG00000254462	Chromatin interaction
ENSG00000233436	Chromatin interaction
ENSG00000198561	Chromatin interaction
ENSG00000254732	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10896634	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11229087	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.84[ASN][1000 genomes]
rs11229115	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1267146	0.86[ASN][1000 genomes]
rs12793139	0.89[JPT][hapmap]
rs1424752	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2848445	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs479573	0.83[ASN][1000 genomes]
rs480933	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs486995	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs491719	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs492131	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs501054	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501738	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs503037	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs504311	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs504921	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs507946	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs509564	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs511708	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs515939	0.89[ASN][1000 genomes]
rs517638	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs518804	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs523985	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs527140	1.00[ASW][hapmap];0.86[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs530094	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs536673	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs537627	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs540234	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs541245	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs544446	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs549022	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs549279	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs558653	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs567017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577741	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs580223	0.84[EUR][1000 genomes]
rs581217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58132137	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs594233	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604094	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604344	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs608648	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609596	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs612688	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61888873	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61888880	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs624759	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs627816	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs628100	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs636807	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs638864	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640767	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645097	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs647264	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656227	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658183	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660763	0.81[AFR][1000 genomes]
rs666021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs669433	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs669950	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs675154	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs676205	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs685110	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs694131	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs694261	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7108113	0.81[ASN][1000 genomes]
rs72928102	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs96894	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription 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	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS 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	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs483030	OR4C11	cis	cerebellum	SCAN
rs483030	MED19	Cis_1M	lymphoblastoid	RTeQTL
rs483030	MED19	cis	cerebellum	SCAN
rs483030	PRG3	cis	parietal	SCAN
rs483030	YPEL4	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57556000-57567800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:57556400-57587800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:57558400-57567200	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:57558400-57567400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:57558600-57567200	Strong transcription	Fetal Brain Female	brain
6	chr11:57559400-57571000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:57560400-57567200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr11:57561600-57568000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:57561600-57568000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:57564400-57567800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr11:57564400-57568000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr11:57564400-57569400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:57564400-57575600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:57564600-57567800	Weak transcription	Brain Substantia Nigra	brain
15	chr11:57564600-57567800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:57564600-57567800	Weak transcription	Dnd41	blood
17	chr11:57564600-57568000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:57564600-57568200	Weak transcription	Fetal Brain Male	brain
19	chr11:57564600-57569000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:57564600-57569200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:57564600-57569200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:57564600-57569200	Weak transcription	Esophagus	oesophagus
23	chr11:57564600-57569200	Weak transcription	Thymus	Thymus
24	chr11:57564600-57571000	Weak transcription	Aorta	Aorta
25	chr11:57564800-57569000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:57564800-57569200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:57565000-57568000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:57565400-57567000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:57565400-57567200	Enhancers	K562	blood
30	chr11:57565400-57568200	Enhancers	Small Intestine	intestine
31	chr11:57565400-57568800	Genic enhancers	Fetal Intestine Large	intestine
32	chr11:57565400-57569400	Enhancers	Stomach Mucosa	stomach
33	chr11:57565400-57570200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr11:57565800-57567000	Genic enhancers	HUVEC	blood vessel
35	chr11:57565800-57567200	Enhancers	Hela-S3	cervix
36	chr11:57565800-57567200	Genic enhancers	HSMM	muscle
37	chr11:57565800-57568800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:57566000-57567000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:57566000-57567000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:57566000-57567000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr11:57566000-57567000	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr11:57566000-57567000	Enhancers	Fetal Heart	heart
43	chr11:57566000-57567000	Genic enhancers	Gastric	stomach
44	chr11:57566000-57567000	Enhancers	Ovary	ovary
45	chr11:57566000-57567000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
46	chr11:57566000-57567000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:57566000-57567200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:57566000-57567200	Genic enhancers	Fetal Lung	lung
49	chr11:57566000-57567200	Enhancers	Rectal Smooth Muscle	rectum
50	chr11:57566000-57567200	Enhancers	Right Ventricle	heart

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