Variant report

Variant	rs3763930
Chromosome Location	chr11:34937486-34937487
allele	C/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	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	EBF1	chr11:34937359-34937916	GM12878	blood:	n/a	chr11:34937734-34937745
6	PBX3	chr11:34937267-34938517	SK-N-SH	brain:	n/a	n/a
7	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
8	CHD2	chr11:34937160-34938695	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr11:34937192-34938723	SK-N-SH	brain:	n/a	chr11:34938198-34938210 chr11:34938192-34938212 chr11:34938069-34938078 chr11:34938135-34938149
10	POLR2A	chr11:34937060-34937984	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr11:34937450-34938424	GM10847	blood:	n/a	n/a
12	MAZ	chr11:34937342-34938704	Hela-S3	cervix:	n/a	chr11:34938367-34938377
13	POLR2A	chr11:34937272-34938598	MCF-7	breast:	n/a	n/a
14	POLR2A	chr11:34937225-34938550	HUVEC	blood vessel:	n/a	n/a
15	MAX	chr11:34937395-34938328	K562	blood:	n/a	n/a
16	TCF12	chr11:34937262-34938569	ECC-1	luminal epithelium:	n/a	n/a
17	SIN3AK20	chr11:34937336-34937789	HepG2	liver:	n/a	n/a
18	MAX	chr11:34937020-34938542	A549	lung:	n/a	chr11:34938367-34938377
19	POLR2A	chr11:34937068-34938638	K562	blood:	n/a	n/a
20	POLR2A	chr11:34937301-34938420	HepG2	liver:	n/a	n/a
21	RUNX3	chr11:34937083-34938498	GM12878	blood:	n/a	n/a
22	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
23	UBTF	chr11:34937082-34938383	K562	blood:	n/a	n/a
24	POLR2A	chr11:34937133-34938775	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:34937241-34938515	GM18951	blood:	n/a	n/a
26	TAF1	chr11:34937291-34938731	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr11:34937144-34938473	GM12878	blood:	n/a	n/a
28	TAF1	chr11:34937225-34937925	Hela-S3	cervix:	n/a	n/a
29	MXI1	chr11:34937162-34938857	Hela-S3	cervix:	n/a	n/a
30	TAF1	chr11:34937192-34938577	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr11:34937118-34938874	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr11:34937084-34938790	Hela-S3	cervix:	n/a	n/a
33	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
34	MAX	chr11:34937093-34938463	SK-N-SH	brain:	n/a	chr11:34938367-34938377
35	CHD2	chr11:34937484-34938456	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:34937321-34937939	A549	lung:	n/a	n/a
37	POLR2A	chr11:34937183-34938487	HCT-116	colon:	n/a	n/a
38	MAX	chr11:34937394-34938421	H1-hESC	embryonic stem cell:	n/a	chr11:34938367-34938377
39	POLR2A	chr11:34937170-34938809	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr11:34936953-34938743	H1-neurons	neurons:	n/a	n/a
41	BRCA1	chr11:34937408-34938225	Hela-S3	cervix:	n/a	n/a
42	YY1	chr11:34937432-34938722	SK-N-SH_RA	brain:	n/a	chr11:34938198-34938210 chr11:34938192-34938212 chr11:34938069-34938078 chr11:34938135-34938149
43	TCF12	chr11:34937158-34938589	A549	lung:	n/a	n/a
44	POLR2A	chr11:34937168-34938377	K562	blood:	n/a	n/a
45	E2F6	chr11:34937468-34937722	K562	blood:	n/a	chr11:34937708-34937718 chr11:34937536-34937545 chr11:34937536-34937546 chr11:34937537-34937548 chr11:34937537-34937544 chr11:34937536-34937547 chr11:34937537-34937548 chr11:34937537-34937548
46	SIN3AK20	chr11:34937060-34938601	MCF-7	breast:	n/a	n/a
47	POLR2A	chr11:34937117-34938533	U87	brain:	n/a	n/a
48	POLR2A	chr11:34937078-34938633	PFSK-1	brain:	n/a	n/a
49	POLR2A	chr11:34937230-34938609	ProgFib	skin:	n/a	n/a
50	RCOR1	chr11:34937265-34938412	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:34937484-34937534	NHBE	bronchial:	n/a
2	chr11:34937484-34937534	GM12878	blood:	n/a
3	chr11:34937484-34937534	IMR90	lung:	fetal
4	chr11:34937484-34937534	BJ	skin:	n/a
5	chr11:34937484-34937534	HIPEpiC	eye:	n/a
6	chr11:34937484-34937534	H1-hESC	embryonic stem cell:	embryo
7	chr11:34937484-34937534	HRPEpiC	eye:	n/a
8	chr11:34937484-34937534	HRCEpiC	kidney:	n/a
9	chr11:34937484-34937534	MCF-7	breast:	n/a
10	chr11:34937484-34937534	A549	lung:	n/a
11	chr11:34937484-34937534	ECC-1	luminal epithelium:	n/a
12	chr11:34937484-34937534	PFSK-1	brain:	n/a
13	chr11:34937484-34937534	MCF10A-Er-Src	breast:	n/a
14	chr11:34937484-34937534	T-47D	breast:	n/a
15	chr11:34937484-34937534	SK-N-SH	brain:	n/a
16	chr11:34937484-34937534	NB4	blood:	n/a
17	chr11:34937484-34937534	NHDF-neo	bronchial:	n/a
18	chr11:34937484-34937534	HCT-116	colon:	n/a
19	chr11:34937484-34937534	PrEC	prostate:	n/a
20	chr11:34937484-34937534	Hela-S3	cervix:	n/a
21	chr11:34937484-34937534	SAEC	small airway:	n/a
22	chr11:34937484-34937534	AoSMC	blood vessel:	n/a
23	chr11:34937484-34937534	AG10803	skin:	n/a
24	chr11:34937484-34937534	SKMC	muscle:	n/a
25	chr11:34937484-34937534	HNPCEpiC	eye:	n/a
26	chr11:34937484-34937534	LNCaP	prostate:	n/a
27	chr11:34937484-34937534	K562	blood:	n/a
28	chr11:34937484-34937534	NH-A	brain:	n/a
29	chr11:34937484-34937534	AG09319	gingival:	n/a
30	chr11:34937484-34937534	HepG2	liver:	n/a
31	chr11:34937484-34937534	Hepatocyte	liver:	n/a
32	chr11:34937484-34937534	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:34937484-34937534	HL-60	blood:	n/a
34	chr11:34937484-34937534	HCM	heart:	n/a
35	chr11:34937484-34937534	U87	brain:	n/a
36	chr11:34937484-34937534	RPTEC	kidney:	n/a
37	chr11:34937484-34937534	AG04449	skin:	fetal
38	chr11:34937484-34937534	ProgFib	skin:	n/a
39	chr11:34937484-34937534	CMK	blood:	n/a
40	chr11:34937484-34937534	HMEC	breast:	n/a
41	chr11:34937484-34937534	ovcar-3	ovarian:	n/a
42	chr11:34937484-34937534	SK-N-MC	brain:	n/a
43	chr11:34937484-34937534	SK-N-SH_RA	brain:	n/a
44	chr11:34937484-34937534	HUVEC	blood vessel:	n/a
45	chr11:34937484-34937534	HCF	heart:	n/a
46	chr11:34937484-34937534	AG09309	skin:	n/a
47	chr11:34937484-34937534	NT2-D1	testis:	n/a
48	chr11:34937484-34937534	HRE	kidney:	n/a
49	chr11:34937484-34937534	HEEpiC	esophagus:	n/a
50	chr11:34937484-34937534	GM06990	blood:	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
PDHX	CpG island
ENSG00000179431	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000149573	Chromatin interaction
ENSG00000255427	Chromatin interaction

Extended variants
information (count: 139 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10488801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10488803	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10488804	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1049306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1049307	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[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	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11032938	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11032940	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11032941	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11032942	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
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[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[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	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12275911	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12276735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278245	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[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	0.97[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]
rs12288594	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	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12293733	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	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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763929	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763931	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]
rs3763933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763934	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	0.83[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	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[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[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[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]
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	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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7111607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7113708	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[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	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[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]
rs7130867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7130874	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]
rs7931814	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7940226	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7945013	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7947650	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7952208	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:12)

SNP	Gene	Cis/trans	Tissue	Source
rs3763930	APIP	cis	Whole Blood	GTEx
rs3763930	APIP	cis	Skin Sun Exposed Lower leg	GTEx
rs3763930	APIP	cis	Adipose Subcutaneous	GTEx
rs3763930	APIP	cis	Esophagus Mucosa	GTEx
rs3763930	APIP	cis	Muscle Skeletal	GTEx
rs3763930	APIP	cis	lung	GTEx
rs3763930	APIP	cis	Thyroid	GTEx
rs3763930	APIP	cis	Artery Tibial	GTEx
rs3763930	APIP	cis	Artery Aorta	GTEx
rs3763930	APIP	cis	Heart Left Ventricle	GTEx
rs3763930	APIP	cis	Stomach	GTEx
rs3763930	APIP	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34936200-34939200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:34936200-34940000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:34936600-34937600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:34936600-34938800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:34936600-34938800	Active TSS	Sigmoid Colon	Sigmoid Colon
6	chr11:34936600-34939000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:34936600-34939000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr11:34936600-34939200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:34936600-34939200	Active TSS	HMEC	breast
10	chr11:34936600-34939600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:34936600-34939800	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr11:34936800-34937600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr11:34936800-34937600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr11:34936800-34937600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:34936800-34937600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:34936800-34938600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr11:34936800-34938800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:34936800-34939000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:34936800-34939000	Active TSS	Fetal Brain Female	brain
20	chr11:34936800-34939000	Active TSS	Psoas Muscle	Psoas
21	chr11:34936800-34939000	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr11:34936800-34939000	Active TSS	A549	lung
23	chr11:34936800-34939000	Active TSS	GM12878-XiMat	blood
24	chr11:34936800-34939200	Active TSS	H1 Cell Line	embryonic stem cell
25	chr11:34936800-34939200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr11:34936800-34939200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:34936800-34939200	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr11:34936800-34939200	Active TSS	Brain Angular Gyrus	brain
29	chr11:34936800-34939200	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr11:34936800-34939200	Active TSS	NHLF	lung
31	chr11:34936800-34939600	Active TSS	Right Ventricle	heart
32	chr11:34937000-34938400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:34937000-34938600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:34937000-34938600	Active TSS	Fetal Lung	lung
35	chr11:34937000-34938600	Active TSS	Placenta	Placenta
36	chr11:34937000-34938800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:34937000-34938800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:34937000-34938800	Active TSS	Esophagus	oesophagus
39	chr11:34937000-34938800	Active TSS	Small Intestine	intestine
40	chr11:34937000-34938800	Active TSS	NH-A	brain
41	chr11:34937000-34939000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:34937000-34939000	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr11:34937000-34939000	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr11:34937000-34939000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:34937000-34939000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:34937000-34939000	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr11:34937000-34939000	Active TSS	Aorta	Aorta
48	chr11:34937000-34939000	Active TSS	Brain Anterior Caudate	brain
49	chr11:34937000-34939000	Active TSS	Brain Germinal Matrix	brain
50	chr11:34937000-34939000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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