Variant report

Variant	rs6985066
Chromosome Location	chr8:87526439-87526440
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:210)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:210 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr8:87526395-87526656	K562	blood:	n/a	n/a
2	USF2	chr8:87526366-87526494	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr8:87526400-87526550	GM12865	blood:	n/a	n/a
4	MAX	chr8:87526340-87527110	SK-N-SH	brain:	n/a	n/a
5	MYC	chr8:87526396-87527211	K562	blood:	n/a	n/a
6	IRF1	chr8:87526389-87527575	K562	blood:	n/a	n/a
7	POLR2A	chr8:87526362-87527060	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr8:87526302-87527344	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr8:87526406-87527361	HepG2	liver:	n/a	n/a
10	CTCF	chr8:87526420-87526570	AG09309	skin:	n/a	n/a
11	MAX	chr8:87526084-87527565	MCF-7	breast:	n/a	n/a
12	EP300	chr8:87526405-87526607	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:87526322-87527382	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr8:87526300-87526450	GM12878	blood:	n/a	n/a
15	REST	chr8:87526337-87526603	HepG2	liver:	n/a	chr8:87526542-87526550 chr8:87526567-87526577
16	MAX	chr8:87526249-87527369	ECC-1	luminal epithelium:	n/a	n/a
17	MXI1	chr8:87526395-87527137	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr8:87526397-87526949	HepG2	liver:	n/a	n/a
19	CTCF	chr8:87526420-87526570	K562	blood:	n/a	n/a
20	BHLHE40	chr8:87526375-87527109	K562	blood:	n/a	chr8:87526895-87526911 chr8:87526892-87526908
21	HCFC1	chr8:87526392-87527091	K562	blood:	n/a	n/a
22	RCOR1	chr8:87526433-87527350	K562	blood:	n/a	n/a
23	POLR2A	chr8:87526284-87527175	K562	blood:	n/a	n/a
24	CTCF	chr8:87526360-87526510	HAc	cerebellar:	n/a	n/a
25	SP1	chr8:87526329-87526814	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr8:87526350-87527309	GM18951	blood:	n/a	n/a
27	RAD21	chr8:87526363-87526752	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr8:87526334-87526915	K562	blood:	n/a	n/a
29	POLR2A	chr8:87526340-87527022	ECC-1	luminal epithelium:	n/a	n/a
30	WRNIP1	chr8:87526246-87526878	GM12878	blood:	n/a	n/a
31	POLR2A	chr8:87526388-87526609	HepG2	liver:	n/a	n/a
32	POLR2A	chr8:87526393-87526972	SK-N-SH	brain:	n/a	n/a
33	RFX5	chr8:87526411-87527244	Hela-S3	cervix:	n/a	chr8:87526786-87526801 chr8:87526813-87526822 chr8:87526810-87526825
34	CTCF	chr8:87526320-87526470	HCM	heart:	n/a	n/a
35	HDAC2	chr8:87526313-87527004	MCF-7	breast:	n/a	n/a
36	SP1	chr8:87526374-87527066	GM12878	blood:	n/a	n/a
37	MAX	chr8:87526436-87526634	K562	blood:	n/a	n/a
38	CTCF	chr8:87526360-87526510	NHEK	skin:	n/a	n/a
39	MYC	chr8:87526347-87527220	K562	blood:	n/a	n/a
40	POLR2A	chr8:87526416-87527084	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr8:87526331-87527200	Raji	blood:	n/a	n/a
42	POLR2A	chr8:87526360-87527241	PFSK-1	brain:	n/a	n/a
43	IRF1	chr8:87526355-87526582	K562	blood:	n/a	n/a
44	PML	chr8:87526305-87527230	MCF-7	breast:	n/a	n/a
45	TAF1	chr8:87526386-87527136	ECC-1	luminal epithelium:	n/a	n/a
46	CTCF	chr8:87526360-87526510	HRPEpiC	eye:	n/a	n/a
47	POLR2A	chr8:87526333-87527018	HCT-116	colon:	n/a	n/a
48	MAX	chr8:87526395-87527223	HepG2	liver:	n/a	n/a
49	YY1	chr8:87526348-87526618	GM12878	blood:	n/a	n/a
50	CTCF	chr8:87526434-87526638	Spleen_OC	spleen:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87519046..87522405-chr8:87523698..87528376,9	K562	blood:
2	chr7:27170045..27170565-chr8:87526350..87526968,3	MCF-7	breast:
3	chr8:87524372..87527585-chr8:99056393..99058902,3	MCF-7	breast:
4	chr19:55918638..55919439-chr8:87526309..87526952,2	HCT-116	colon:
5	chr14:35870258..35872517-chr8:87524320..87526533,2	MCF-7	breast:
6	chr8:87518953..87524236-chr8:87524519..87528376,7	K562	blood:

No data

Variant related genes	Relation type
CPNE3	TF binding region
ENSG00000156482	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000176623	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000197576	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10086340	0.86[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10087788	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10093238	0.83[CHD][hapmap]
rs10095498	0.91[ASW][hapmap];0.86[CEU][hapmap];0.87[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10097450	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap]
rs10098356	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10102229	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1016102	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10481197	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956873	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1135451	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11539113	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11781016	0.85[CHD][hapmap]
rs11992656	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11992955	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12541793	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12543544	0.84[ASN][1000 genomes]
rs12544463	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12546802	0.90[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12550142	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12678720	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12678772	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12679811	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13042	0.83[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13249177	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13249753	1.00[ASW][hapmap];0.90[CEU][hapmap];0.87[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13251006	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13252046	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13253261	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13253296	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13253515	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13256765	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13257414	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13258126	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13260345	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13261901	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13261956	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13264021	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13264364	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13267782	0.86[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13267858	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13269259	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13270090	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13272148	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13273338	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13279589	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13279850	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13281414	0.90[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13282351	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28378899	0.81[AFR][1000 genomes]
rs28561640	0.87[AFR][1000 genomes]
rs2953517	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2976178	0.85[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.94[YRI][hapmap]
rs2976201	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs3213912	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[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];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34219490	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34227066	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34367154	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34596274	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34794500	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35418161	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35471529	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35592191	0.89[AMR][1000 genomes]
rs35871312	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36081104	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779806	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779808	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4129535	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41469550	0.81[AFR][1000 genomes]
rs4490816	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap]
rs4587306	0.91[ASW][hapmap];0.82[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap]
rs4961188	0.86[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap]
rs4961193	1.00[ASW][hapmap];0.86[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.84[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4961195	0.87[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs4961197	0.95[CEU][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56752411	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60982560	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61106663	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6415565	0.82[CHD][hapmap]
rs6471296	0.82[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap]
rs6471309	0.82[ASW][hapmap];0.86[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.80[MKK][hapmap];0.90[TSI][hapmap];0.94[YRI][hapmap]
rs6471316	0.81[AFR][1000 genomes]
rs6471360	1.00[ASW][hapmap];0.95[CEU][hapmap];0.87[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];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6651267	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs6651269	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66808088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67123356	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs68008113	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6992287	0.81[AFR][1000 genomes]
rs6992944	0.81[AFR][1000 genomes]
rs6998303	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7003059	0.83[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap]
rs7006017	0.83[CHD][hapmap]
rs7006629	0.83[CHD][hapmap]
rs7007055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7007855	0.84[AFR][1000 genomes]
rs7017706	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7017716	1.00[ASW][hapmap];0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.90[TSI][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs72606633	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7459877	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7460342	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7460650	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7461366	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7461413	0.86[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7461668	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7462883	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7465511	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]
rs7820234	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap]
rs7820697	0.81[CHD][hapmap]
rs7823154	0.84[CHD][hapmap]
rs7830480	0.81[AFR][1000 genomes]
rs7832493	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap]
rs7833049	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7837569	1.00[ASW][hapmap];0.95[CEU][hapmap];0.87[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];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7839601	0.95[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7842042	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7846090	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8635	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9297921	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9297922	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9297923	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9942792	0.94[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9942793	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9942823	0.90[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6985066	FAM82B	cis	cerebellum	SCAN
rs6985066	RMDN1	cis	Whole Blood	GTEx
rs6985066	FAM82B	Cis_1M	lymphoblastoid	RTeQTL
rs6985066	FAM82B	cis	parietal	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87521400-87526600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:87521600-87526600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:87521600-87526600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:87521600-87526600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:87524800-87526800	Weak transcription	Fetal Heart	heart
6	chr8:87525600-87526600	Flanking Active TSS	Dnd41	blood
7	chr8:87525800-87526600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:87525800-87526600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:87526000-87526600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:87526000-87526600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:87526000-87526600	Enhancers	Primary hematopoietic stem cells	blood
12	chr8:87526000-87526600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr8:87526000-87526600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr8:87526000-87526600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:87526000-87527000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:87526000-87527200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:87526200-87526600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:87526200-87526600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:87526200-87526600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:87526200-87526600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr8:87526200-87526600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr8:87526200-87526600	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr8:87526200-87526600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr8:87526200-87526600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr8:87526200-87526600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr8:87526200-87526600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:87526200-87526600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr8:87526200-87526600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:87526200-87526600	Enhancers	Adipose Nuclei	Adipose
30	chr8:87526200-87526600	Enhancers	Liver	Liver
31	chr8:87526200-87526600	Enhancers	Colonic Mucosa	Colon
32	chr8:87526200-87526600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr8:87526200-87526600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:87526200-87526600	Enhancers	Fetal Intestine Large	intestine
35	chr8:87526200-87526600	Enhancers	Fetal Intestine Small	intestine
36	chr8:87526200-87526600	Enhancers	Fetal Lung	lung
37	chr8:87526200-87526600	Enhancers	Placenta	Placenta
38	chr8:87526200-87526600	Flanking Active TSS	Fetal Thymus	thymus
39	chr8:87526200-87526600	Enhancers	Left Ventricle	heart
40	chr8:87526200-87526600	Enhancers	Lung	lung
41	chr8:87526200-87526600	Weak transcription	Pancreas	Pancrea
42	chr8:87526200-87526600	Enhancers	Psoas Muscle	Psoas
43	chr8:87526200-87526600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr8:87526200-87526600	Weak transcription	Small Intestine	intestine
45	chr8:87526200-87526600	Flanking Active TSS	K562	blood
46	chr8:87526200-87526600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr8:87526200-87526600	Enhancers	Osteobl	bone
48	chr8:87526200-87526800	Active TSS	Brain Germinal Matrix	brain
49	chr8:87526200-87527400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr8:87526200-87527400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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