Variant report

Variant	rs7465511
Chromosome Location	chr8:87521481-87521482
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	MXI1	chr8:87520160-87521531	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:87520160-87521529	K562	blood:	n/a	n/a
3	HCFC1	chr8:87520075-87521517	Hela-S3	cervix:	n/a	n/a
4	JUND	chr8:87519797-87521508	K562	blood:	n/a	chr8:87520898-87520907
5	IRF1	chr8:87519931-87521496	K562	blood:	n/a	chr8:87521189-87521199 chr8:87520684-87520693 chr8:87521185-87521199 chr8:87520096-87520107
6	SIN3AK20	chr8:87519881-87521582	MCF-7	breast:	n/a	n/a
7	CTCF	chr8:87521460-87521610	GM06990	blood:	n/a	n/a
8	ZNF143	chr8:87520306-87521491	K562	blood:	n/a	n/a
9	MXI1	chr8:87520034-87521488	GM12878	blood:	n/a	n/a
10	MAZ	chr8:87520546-87521492	HepG2	liver:	n/a	n/a
11	IRF1	chr8:87520109-87521640	K562	blood:	n/a	chr8:87521515-87521525 chr8:87521189-87521199 chr8:87521517-87521531 chr8:87521513-87521533 chr8:87520684-87520693 chr8:87521185-87521199 chr8:87521515-87521529
12	CUX1	chr8:87521362-87521946	K562	blood:	n/a	n/a
13	POLR2A	chr8:87519805-87521867	GM12878	blood:	n/a	n/a
14	MAX	chr8:87520220-87521615	A549	lung:	n/a	chr8:87520494-87520503
15	HA-E2F1	chr8:87520245-87521499	MCF-7	breast:	n/a	chr8:87521071-87521080 chr8:87520939-87520948 chr8:87520899-87520908
16	MAX	chr8:87520032-87521578	HCT-116	colon:	n/a	chr8:87520494-87520503
17	TBL1XR1	chr8:87520760-87521558	K562	blood:	n/a	n/a
18	EP300	chr8:87520568-87521527	K562	blood:	n/a	chr8:87521184-87521198 chr8:87520939-87520948
19	CTCF	chr8:87521360-87521510	HRPEpiC	eye:	n/a	n/a
20	POLR2A	chr8:87520024-87521507	IMR90	lung:	n/a	n/a
21	BRCA1	chr8:87520340-87521512	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr8:87520188-87521504	K562	blood:	n/a	n/a
23	E2F6	chr8:87520311-87521573	K562	blood:	n/a	chr8:87521071-87521080 chr8:87520939-87520948 chr8:87520899-87520908 chr8:87521027-87521038
24	CTCF	chr8:87521340-87521490	HCPEpiC	choroid plexus:	n/a	n/a
25	RELA	chr8:87520081-87521649	GM18505	blood:	n/a	n/a
26	GABPA	chr8:87520108-87521714	MCF-7	breast:	n/a	chr8:87521067-87521081 chr8:87520899-87520908 chr8:87520939-87520948
27	BHLHE40	chr8:87520216-87521529	GM12878	blood:	n/a	n/a
28	CTCF	chr8:87520541-87521588	K562	blood:	n/a	n/a
29	ELF1	chr8:87520167-87521518	MCF-7	breast:	n/a	n/a
30	POLR2A	chr8:87521400-87521561	K562	blood:	n/a	n/a
31	POLR2A	chr8:87519202-87521831	GM12891	blood:	n/a	n/a
32	MAX	chr8:87520070-87521511	A549	lung:	n/a	chr8:87520494-87520503
33	CTCF	chr8:87520174-87521587	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr8:87520142-87521491	U87	brain:	n/a	n/a
35	POLR2A	chr8:87520055-87521491	U87	brain:	n/a	n/a
36	MAZ	chr8:87519767-87521579	IMR90	lung:	n/a	chr8:87520494-87520503
37	ELF1	chr8:87520221-87521524	HCT-116	colon:	n/a	n/a
38	RELA	chr8:87520145-87521626	GM12891	blood:	n/a	n/a
39	NRF1	chr8:87520203-87521507	GM12878	blood:	n/a	chr8:87521067-87521081 chr8:87520899-87520908 chr8:87520939-87520948
40	MAX	chr8:87520028-87521555	MCF-7	breast:	n/a	chr8:87520494-87520503
41	GTF2F1	chr8:87520201-87521591	Hela-S3	cervix:	n/a	chr8:87520359-87520370
42	TCF12	chr8:87520357-87521486	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:87521456-87521506	HPAEpiC	pulmonary alveolar:	n/a
2	chr8:87521456-87521506	CMK	blood:	n/a
3	chr8:87521456-87521506	HEEpiC	esophagus:	n/a
4	chr8:87521456-87521506	NB4	blood:	n/a
5	chr8:87521456-87521506	HEK293	kidney:	embryo
6	chr8:87521456-87521506	PANC-1	pancreas:	n/a
7	chr8:87521456-87521506	NHDF-neo	bronchial:	n/a
8	chr8:87521456-87521506	HCF	heart:	n/a
9	chr8:87521456-87521506	NHBE	bronchial:	n/a
10	chr8:87521456-87521506	AG09319	gingival:	n/a
11	chr8:87521456-87521506	SK-N-MC	brain:	n/a
12	chr8:87521456-87521506	GM06990	blood:	n/a
13	chr8:87521456-87521506	AG04450	lung:	fetal
14	chr8:87521456-87521506	Hela-S3	cervix:	n/a
15	chr8:87521456-87521506	IMR90	lung:	fetal
16	chr8:87521456-87521506	GM12892	blood:	n/a
17	chr8:87521456-87521506	LNCaP	prostate:	n/a
18	chr8:87521456-87521506	MCF-7	breast:	n/a
19	chr8:87521456-87521506	GM12891	blood:	n/a
20	chr8:87521456-87521506	SK-N-SH_RA	brain:	n/a
21	chr8:87521456-87521506	Jurkat	blood:	n/a
22	chr8:87521456-87521506	HCT-116	colon:	n/a
23	chr8:87521456-87521506	RPTEC	kidney:	n/a
24	chr8:87521456-87521506	HNPCEpiC	eye:	n/a
25	chr8:87521456-87521506	HepG2	liver:	n/a
26	chr8:87521456-87521506	HCPEpiC	choroid plexus:	n/a
27	chr8:87521456-87521506	H1-hESC	embryonic stem cell:	embryo
28	chr8:87521456-87521506	ProgFib	skin:	n/a
29	chr8:87521456-87521506	HCM	heart:	n/a
30	chr8:87521456-87521506	AG09309	skin:	n/a
31	chr8:87521456-87521506	GM19239	blood:	n/a
32	chr8:87521456-87521506	Hepatocyte	liver:	n/a
33	chr8:87521456-87521506	PFSK-1	brain:	n/a
34	chr8:87521456-87521506	SK-N-SH	brain:	n/a
35	chr8:87521456-87521506	U87	brain:	n/a
36	chr8:87521456-87521506	A549	lung:	n/a
37	chr8:87521456-87521506	BE2_C	brain:	n/a
38	chr8:87521456-87521506	AoSMC	blood vessel:	n/a
39	chr8:87521456-87521506	ECC-1	luminal epithelium:	n/a
40	chr8:87521456-87521506	Caco-2	colon:	n/a
41	chr8:87521456-87521506	HRCEpiC	kidney:	n/a
42	chr8:87521456-87521506	MCF10A-Er-Src	breast:	n/a
43	chr8:87521456-87521506	ovcar-3	ovarian:	n/a
44	chr8:87521456-87521506	HIPEpiC	eye:	n/a
45	chr8:87521456-87521506	NT2-D1	testis:	n/a
46	chr8:87521456-87521506	K562	blood:	n/a
47	chr8:87521456-87521506	T-47D	breast:	n/a
48	chr8:87521456-87521506	SKMC	muscle:	n/a
49	chr8:87521456-87521506	NH-A	brain:	n/a
50	chr8:87521456-87521506	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:61101688..61103603-chr8:87519693..87522551,2	MCF-7	breast:
2	chr8:87487270..87490849-chr8:87519324..87522121,4	K562	blood:
3	chr8:87355027..87357482-chr8:87519258..87521837,2	K562	blood:
4	chr8:87486012..87489459-chr8:87519417..87522118,5	MCF-7	breast:
5	chr17:56735220..56736743-chr8:87519263..87521949,2	MCF-7	breast:
6	chr8:87518953..87524236-chr8:87524519..87528376,7	K562	blood:
7	chr8:87492324..87497991-chr8:87518822..87522169,6	MCF-7	breast:
8	chr8:87495583..87497504-chr8:87520238..87522113,2	K562	blood:
9	chr8:87498873..87500941-chr8:87519267..87521705,2	K562	blood:
10	chr8:87519046..87522405-chr8:87523698..87528376,9	K562	blood:
11	chr8:87488182..87492141-chr8:87519043..87522163,5	K562	blood:

Variant related genes	Relation type
RMDN1	TF binding region
RMDN1	CpG island
ENSG00000176623	Chromatin interaction
ENSG00000149476	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000250569	Chromatin interaction
ENSG00000085719	Chromatin interaction
ENSG00000254231	Chromatin interaction

Extended variants
information (count: 156 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs10086340	0.90[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10087788	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10088739	0.82[JPT][hapmap]
rs10093238	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs10095129	0.82[JPT][hapmap]
rs10095498	0.91[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10096168	0.82[JPT][hapmap]
rs10096443	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs10097450	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs10098356	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10102229	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10103691	0.84[JPT][hapmap]
rs1016102	0.90[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10481197	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956800	0.80[JPT][hapmap]
rs10956853	0.82[JPT][hapmap]
rs10956873	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1135451	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11539113	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11775728	0.82[JPT][hapmap]
rs11781016	0.82[CHD][hapmap]
rs11787318	0.82[JPT][hapmap]
rs11992656	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11992955	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12541793	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12543544	0.86[ASN][1000 genomes]
rs12543856	0.82[JPT][hapmap]
rs12544463	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12546802	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12550142	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12678720	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12678772	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12679811	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13042	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13249177	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13249753	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13251006	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13251647	0.82[JPT][hapmap]
rs13252046	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13253261	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13253296	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13253515	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13256765	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13257414	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13258126	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13260345	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13261901	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13261956	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13264021	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13264364	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13267782	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13267858	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13269259	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13270090	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13272148	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13273338	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13279589	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13279850	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13281414	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13282351	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17608967	0.82[JPT][hapmap]
rs28378899	0.81[AFR][1000 genomes]
rs28561640	0.87[AFR][1000 genomes]
rs2953517	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2976178	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap]
rs2976201	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3213912	1.00[ASW][hapmap];0.90[CEU][hapmap];0.87[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34219490	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34227066	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34367154	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34596274	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34794500	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35418161	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35471529	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35592191	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35871312	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36081104	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3779806	0.90[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3779808	0.90[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3883910	0.82[JPT][hapmap]
rs4129535	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41469550	0.81[AFR][1000 genomes]
rs4285463	0.82[JPT][hapmap]
rs4490816	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs4587306	0.91[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs4961188	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs4961190	0.82[JPT][hapmap]
rs4961193	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4961194	0.82[JPT][hapmap]
rs4961195	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4961196	0.81[JPT][hapmap]
rs4961197	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56752411	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60982560	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61106663	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6415565	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs6471273	0.82[JPT][hapmap]
rs6471280	0.82[JPT][hapmap]
rs6471296	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs6471309	0.82[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.92[MEX][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap]
rs6471316	0.81[AFR][1000 genomes]
rs6471352	0.82[JPT][hapmap]
rs6471354	0.85[JPT][hapmap]
rs6471360	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];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6651267	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs6651269	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66808088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67123356	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs68008113	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6985066	1.00[ASW][hapmap];0.95[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6992287	0.81[AFR][1000 genomes]
rs6992944	0.81[AFR][1000 genomes]
rs6996052	0.82[JPT][hapmap]
rs6998303	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7003059	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs7006017	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs7006629	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs7007055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7007855	0.84[AFR][1000 genomes]
rs7015490	0.82[JPT][hapmap]
rs7017706	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7017716	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs7017719	0.82[JPT][hapmap]
rs72606633	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7459811	0.82[JPT][hapmap]
rs7459877	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7459897	0.81[JPT][hapmap]
rs7460286	0.82[JPT][hapmap]
rs7460342	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7460439	0.82[JPT][hapmap]
rs7460650	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7461366	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7461413	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7461668	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7462883	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7820234	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs7820697	0.83[CHD][hapmap];0.81[JPT][hapmap]
rs7823154	0.82[CHD][hapmap]
rs7830480	0.81[AFR][1000 genomes]
rs7832493	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs7833049	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7837569	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];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7839601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7842042	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7846090	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8635	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9297921	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9297922	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9297923	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9642913	0.82[JPT][hapmap]
rs9942792	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];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9942793	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9942823	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7465511	FAM82B	Cis_1M	lymphoblastoid	RTeQTL
rs7465511	FAM82B	cis	lesional skin	skin_eQTL
rs7465511	RMDN1	cis	Whole Blood	GTEx
rs7465511	FAM82B	cis	cerebellum	SCAN
rs7465511	FAM82B	cis	Brain Pons	GTEx
rs7465511	FAM82B	cis	parietal	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87519400-87521600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:87519600-87521600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr8:87519600-87521600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:87519600-87521600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:87519600-87521600	Active TSS	HSMM	muscle
6	chr8:87519600-87521600	Active TSS	NHEK	skin
7	chr8:87519600-87521800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:87519600-87521800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:87519800-87521600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:87519800-87521600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:87519800-87521600	Active TSS	Fetal Brain Male	brain
12	chr8:87519800-87521600	Active TSS	Fetal Muscle Trunk	muscle
13	chr8:87519800-87521600	Active TSS	Psoas Muscle	Psoas
14	chr8:87519800-87521600	Active TSS	Right Atrium	heart
15	chr8:87520000-87521600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr8:87520000-87521600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr8:87520000-87521600	Active TSS	Brain Angular Gyrus	brain
18	chr8:87520000-87521600	Active TSS	Brain Germinal Matrix	brain
19	chr8:87520000-87521600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:87520000-87521600	Active TSS	Duodenum Mucosa	Duodenum
21	chr8:87520000-87521600	Active TSS	Fetal Intestine Small	intestine
22	chr8:87520000-87521600	Active TSS	Fetal Kidney	kidney
23	chr8:87520000-87521600	Active TSS	Fetal Stomach	stomach
24	chr8:87520000-87521600	Active TSS	HSMMtube	muscle
25	chr8:87520200-87521600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr8:87520200-87521600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr8:87520200-87521600	Active TSS	Brain Anterior Caudate	brain
28	chr8:87520200-87521600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr8:87520200-87521600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr8:87520200-87521600	Active TSS	Placenta	Placenta
31	chr8:87520200-87521600	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr8:87520200-87521600	Active TSS	Stomach Smooth Muscle	stomach
33	chr8:87520400-87521600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:87520400-87521600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:87521000-87521600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr8:87521000-87521600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:87521000-87521800	Flanking Active TSS	Dnd41	blood
38	chr8:87521200-87521600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:87521200-87521600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr8:87521200-87521600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr8:87521200-87521600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr8:87521200-87521600	Active TSS	Primary B cells from cord blood	blood
43	chr8:87521200-87521600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr8:87521200-87521600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr8:87521200-87521600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr8:87521200-87521600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr8:87521200-87521600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:87521200-87521600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr8:87521200-87521600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr8:87521200-87521600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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