Variant report

Variant	rs3763933
Chromosome Location	chr11:34937330-34937331
allele	A/C
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	REST	chr11:34937162-34937949	HL-60	blood:	n/a	chr11:34937546-34937556 chr11:34937662-34937675
2	TAF1	chr11:34937181-34938599	K562	blood:	n/a	n/a
3	POLR2A	chr11:34936991-34938873	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:34937239-34938481	GM12891	blood:	n/a	n/a
5	PBX3	chr11:34937267-34938517	SK-N-SH	brain:	n/a	n/a
6	E2F6	chr11:34937286-34938484	K562	blood:	n/a	chr11:34937708-34937718 chr11:34937408-34937417 chr11:34938138-34938147 chr11:34937536-34937545 chr11:34937774-34937786 chr11:34937536-34937546 chr11:34937537-34937548 chr11:34938069-34938078 chr11:34938051-34938060 chr11:34937537-34937544 chr11:34937536-34937547 chr11:34937537-34937548 chr11:34937537-34937548
7	CHD2	chr11:34937160-34938695	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr11:34937192-34938723	SK-N-SH	brain:	n/a	chr11:34938198-34938210 chr11:34938192-34938212 chr11:34938069-34938078 chr11:34938135-34938149
9	POLR2A	chr11:34937060-34937984	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr11:34937272-34938598	MCF-7	breast:	n/a	n/a
11	POLR2A	chr11:34937225-34938550	HUVEC	blood vessel:	n/a	n/a
12	TCF12	chr11:34937262-34938569	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr11:34937020-34938542	A549	lung:	n/a	chr11:34938367-34938377
14	POLR2A	chr11:34937068-34938638	K562	blood:	n/a	n/a
15	POLR2A	chr11:34937301-34938420	HepG2	liver:	n/a	n/a
16	RUNX3	chr11:34937083-34938498	GM12878	blood:	n/a	n/a
17	HA-E2F1	chr11:34937166-34937936	MCF-7	breast:	n/a	chr11:34937708-34937718 chr11:34937408-34937417 chr11:34937536-34937545 chr11:34937536-34937546 chr11:34937537-34937548 chr11:34937537-34937544 chr11:34937536-34937547 chr11:34937537-34937548 chr11:34937537-34937548
18	UBTF	chr11:34937082-34938383	K562	blood:	n/a	n/a
19	POLR2A	chr11:34937133-34938775	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:34937241-34938515	GM18951	blood:	n/a	n/a
21	TAF1	chr11:34937291-34938731	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr11:34937144-34938473	GM12878	blood:	n/a	n/a
23	TAF1	chr11:34937225-34937925	Hela-S3	cervix:	n/a	n/a
24	MXI1	chr11:34937162-34938857	Hela-S3	cervix:	n/a	n/a
25	TAF1	chr11:34937192-34938577	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr11:34937118-34938874	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:34937084-34938790	Hela-S3	cervix:	n/a	n/a
28	E2F4	chr11:34937236-34938629	K562	blood:	n/a	chr11:34937708-34937718 chr11:34937408-34937417 chr11:34938138-34938147 chr11:34937536-34937545 chr11:34937774-34937786 chr11:34937536-34937546 chr11:34937537-34937548 chr11:34938069-34938078 chr11:34938051-34938060 chr11:34937537-34937544 chr11:34937536-34937547 chr11:34937537-34937548 chr11:34937537-34937548 chr11:34937546-34937557
29	MAX	chr11:34937093-34938463	SK-N-SH	brain:	n/a	chr11:34938367-34938377
30	POLR2A	chr11:34937321-34937939	A549	lung:	n/a	n/a
31	EP300	chr11:34937081-34937409	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:34937183-34938487	HCT-116	colon:	n/a	n/a
33	POLR2A	chr11:34937170-34938809	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr11:34936953-34938743	H1-neurons	neurons:	n/a	n/a
35	TCF12	chr11:34937158-34938589	A549	lung:	n/a	n/a
36	POLR2A	chr11:34937168-34938377	K562	blood:	n/a	n/a
37	SIN3AK20	chr11:34937060-34938601	MCF-7	breast:	n/a	n/a
38	POLR2A	chr11:34937117-34938533	U87	brain:	n/a	n/a
39	POLR2A	chr11:34937078-34938633	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr11:34937230-34938609	ProgFib	skin:	n/a	n/a
41	RCOR1	chr11:34937265-34938412	HepG2	liver:	n/a	n/a
42	MAX	chr11:34937137-34938389	NB4	blood:	n/a	chr11:34938367-34938377
43	POLR2A	chr11:34937296-34938601	HUVEC	blood vessel:	n/a	n/a
44	TBP	chr11:34937057-34938833	K562	blood:	n/a	n/a
45	MAX	chr11:34937066-34938546	HepG2	liver:	n/a	chr11:34938367-34938377
46	POLR2A	chr11:34937279-34938573	A549	lung:	n/a	n/a
47	TBP	chr11:34937206-34938779	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr11:34936947-34938966	H1-hESC	embryonic stem cell:	n/a	n/a
49	TAF1	chr11:34937067-34938631	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr11:34937209-34938505	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:34937322..34938942-chr11:35639938..35642002,2	MCF-7	breast:
2	chr11:34591227..34593757-chr11:34936738..34938685,2	MCF-7	breast:
3	chr11:34936821..34938525-chr17:38476825..38479359,2	MCF-7	breast:
4	chr11:34937272..34938502-chr11:118134559..118135201,3	Hela-S3	cervix:

Variant related genes	Relation type
PDHX	TF binding region
ENSG00000131759	Chromatin interaction
ENSG00000149573	Chromatin interaction
ENSG00000255427	Chromatin interaction
ENSG00000179431	Chromatin interaction

Extended variants
information (count: 147 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs10488801	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10488803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10488804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10488806	0.86[JPT][hapmap]
rs1049306	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];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1049307	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032927	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032934	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032935	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11032937	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11032938	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11032940	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11032941	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11032942	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11032943	1.00[JPT][hapmap];0.90[YRI][hapmap]
rs11500295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11500296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11500297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11500299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12270487	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12271341	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12273271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12274383	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274490	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12275275	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12275277	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12275339	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12275620	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12275911	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12276735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278245	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12278785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12279553	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12282098	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12282382	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12282419	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12282552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12285752	0.86[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12286436	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12286442	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12286538	1.00[JPT][hapmap]
rs12288594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12288628	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12289218	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12292719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12293733	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12294047	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12294125	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12294594	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12295408	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12295537	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12385808	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs16926431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926448	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033359	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2077926	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2102475	0.93[ASN][1000 genomes]
rs2163377	0.93[ASN][1000 genomes]
rs3763924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763929	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763931	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763934	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763936	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763937	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3794161	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3794162	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3794163	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3794165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3794166	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794170	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3818393	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3962032	0.93[ASN][1000 genomes]
rs56898019	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57257751	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58519774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60346281	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60632777	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60774328	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61446941	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6484746	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6484748	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7101458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7102259	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7104418	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104829	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104943	0.83[ASN][1000 genomes]
rs7105141	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105167	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110223	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7111607	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7113708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7115153	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7115409	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7116386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116411	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118017	0.93[ASN][1000 genomes]
rs7119524	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7119958	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7121117	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121341	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126410	0.93[ASN][1000 genomes]
rs7126659	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7127715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7127846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7129830	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7130867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7130874	0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7131118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7924507	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7925118	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7929220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7931454	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7931814	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7938962	1.00[JPT][hapmap]
rs7940226	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7941930	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7945013	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7947650	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7952208	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7952624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7952629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9804643	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv2757436	chr11:34913315-34963728	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
4	esv2759817	chr11:34913315-34963728	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
5	esv34511	chr11:34914124-34942836	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
6	esv2756165	chr11:34914137-34942836	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs3763933	APIP	cis	Esophagus Muscularis	GTEx
rs3763933	APIP	cis	Stomach	GTEx
rs3763933	APIP	cis	Thyroid	GTEx
rs3763933	APIP	cis	Whole Blood	GTEx
rs3763933	APIP	cis	Artery Tibial	GTEx
rs3763933	APIP	cis	Esophagus Mucosa	GTEx
rs3763933	APIP	cis	lung	GTEx
rs3763933	APIP	cis	Artery Aorta	GTEx
rs3763933	APIP	cis	Heart Left Ventricle	GTEx
rs3763933	APIP	cis	Skin Sun Exposed Lower leg	GTEx
rs3763933	APIP	cis	Muscle Skeletal	GTEx
rs3763933	APIP	cis	Adipose Subcutaneous	GTEx
rs3763933	APIP	cis	normal skin	skin_eQTL
rs3763933	APIP	cis	uninvolved skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34936000-34937400	Flanking Active TSS	Dnd41	blood
2	chr11:34936200-34939200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:34936200-34940000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:34936600-34937400	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr11:34936600-34937400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr11:34936600-34937400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr11:34936600-34937400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr11:34936600-34937400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr11:34936600-34937400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:34936600-34937400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:34936600-34937400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr11:34936600-34937400	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr11:34936600-34937400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr11:34936600-34937400	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr11:34936600-34937400	Flanking Active TSS	Hela-S3	cervix
16	chr11:34936600-34937400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr11:34936600-34937600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:34936600-34938800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:34936600-34938800	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr11:34936600-34939000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr11:34936600-34939000	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:34936600-34939200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:34936600-34939200	Active TSS	HMEC	breast
24	chr11:34936600-34939600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:34936600-34939800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr11:34936800-34937400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr11:34936800-34937400	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr11:34936800-34937400	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr11:34936800-34937400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr11:34936800-34937400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr11:34936800-34937400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:34936800-34937400	Flanking Active TSS	Liver	Liver
33	chr11:34936800-34937400	Flanking Active TSS	Stomach Mucosa	stomach
34	chr11:34936800-34937400	Flanking Active TSS	HUVEC	blood vessel
35	chr11:34936800-34937400	Flanking Active TSS	Osteobl	bone
36	chr11:34936800-34937600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr11:34936800-34937600	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr11:34936800-34937600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:34936800-34937600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:34936800-34938600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr11:34936800-34938800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:34936800-34939000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:34936800-34939000	Active TSS	Fetal Brain Female	brain
44	chr11:34936800-34939000	Active TSS	Psoas Muscle	Psoas
45	chr11:34936800-34939000	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr11:34936800-34939000	Active TSS	A549	lung
47	chr11:34936800-34939000	Active TSS	GM12878-XiMat	blood
48	chr11:34936800-34939200	Active TSS	H1 Cell Line	embryonic stem cell
49	chr11:34936800-34939200	Active TSS	H9 Cell Line	embryonic stem cell
50	chr11:34936800-34939200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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