Variant report

Variant	rs2357998
Chromosome Location	chr8:67624669-67624670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr8:67624461-67624767	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:67624457-67625482	HepG2	liver:	n/a	n/a
3	HEY1	chr8:67624436-67625467	HepG2	liver:	n/a	chr8:67624869-67624884 chr8:67625028-67625043 chr8:67625033-67625048 chr8:67624608-67624623
4	CTCF	chr8:67624580-67624730	HBMEC	blood vessel:	n/a	n/a
5	UBTF	chr8:67624485-67625586	K562	blood:	n/a	n/a
6	CTBP2	chr8:67624492-67625436	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr8:67624431-67625690	HepG2	liver:	n/a	n/a
8	EP300	chr8:67624628-67624802	HepG2	liver:	n/a	chr8:67624647-67624663
9	POLR2A	chr8:67624511-67625520	MCF10A-Er-Src	breast:	n/a	n/a
10	MXI1	chr8:67624570-67624769	Hela-S3	cervix:	n/a	n/a
11	TAF1	chr8:67624458-67625376	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr8:67624452-67624914	HepG2	liver:	n/a	n/a
13	MAX	chr8:67624532-67625461	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr8:67624405-67625556	HepG2	liver:	n/a	n/a
15	POLR2A	chr8:67624476-67625538	HCT-116	colon:	n/a	n/a
16	MAX	chr8:67624535-67625341	K562	blood:	n/a	n/a
17	POLR2A	chr8:67624507-67625203	HepG2	liver:	n/a	n/a
18	POLR2A	chr8:67624421-67625505	HepG2	liver:	n/a	n/a
19	KAP1	chr8:67623296-67624934	HEK293	kidney:	n/a	n/a
20	POLR2A	chr8:67624518-67625539	HCT-116	colon:	n/a	n/a
21	CHD2	chr8:67624469-67624888	GM12878	blood:	n/a	chr8:67624872-67624882
22	MAX	chr8:67624652-67625817	SK-N-SH	brain:	n/a	n/a
23	FOXA1	chr8:67624466-67624962	HepG2	liver:	n/a	n/a
24	MAZ	chr8:67624613-67625243	K562	blood:	n/a	n/a
25	UBTF	chr8:67624492-67625326	K562	blood:	n/a	n/a
26	ZNF263	chr8:67624658-67625427	HEK293-T-REx	kidney:	n/a	chr8:67625002-67625011
27	POLR2A	chr8:67624530-67625323	HUVEC	blood vessel:	n/a	n/a
28	HMGN3	chr8:67624482-67625422	K562	blood:	n/a	n/a
29	BHLHE40	chr8:67624571-67625098	HepG2	liver:	n/a	chr8:67624858-67624874 chr8:67625038-67625054 chr8:67625031-67625047
30	ZBTB7A	chr8:67624391-67624755	HepG2	liver:	n/a	n/a
31	POLR2A	chr8:67624639-67625341	GM18951	blood:	n/a	n/a
32	MAZ	chr8:67624646-67625481	HepG2	liver:	n/a	n/a
33	POLR2A	chr8:67624578-67624875	HepG2	liver:	n/a	n/a
34	HNF4G	chr8:67624484-67624885	HepG2	liver:	n/a	chr8:67624854-67624876 chr8:67624717-67624731 chr8:67624718-67624730 chr8:67624717-67624730 chr8:67624716-67624731 chr8:67624717-67624732 chr8:67624713-67624735 chr8:67624718-67624731 chr8:67624716-67624731 chr8:67624718-67624730 chr8:67624715-67624733 chr8:67624718-67624731 chr8:67624718-67624731
35	POLR2A	chr8:67624623-67625390	HEK293	kidney:	n/a	n/a
36	TCF12	chr8:67624342-67624929	ECC-1	luminal epithelium:	n/a	chr8:67624835-67624845
37	HNF4A	chr8:67624549-67624882	HepG2	liver:	n/a	chr8:67624854-67624876 chr8:67624717-67624731 chr8:67624718-67624730 chr8:67624717-67624730 chr8:67624716-67624731 chr8:67624716-67624731 chr8:67624713-67624735 chr8:67624718-67624731 chr8:67624716-67624731 chr8:67624718-67624730 chr8:67624715-67624733 chr8:67624718-67624731 chr8:67624718-67624731
38	REST	chr8:67624560-67625472	PFSK-1	brain:	n/a	chr8:67625204-67625214 chr8:67625050-67625064 chr8:67625052-67625062 chr8:67624857-67624870
39	TAF1	chr8:67624571-67625149	HepG2	liver:	n/a	n/a
40	HA-E2F1	chr8:67624666-67625264	Hela-S3	cervix:	n/a	chr8:67625203-67625213 chr8:67624769-67624777 chr8:67625059-67625069 chr8:67624857-67624867 chr8:67624769-67624777 chr8:67625075-67625085 chr8:67625031-67625040
41	JUND	chr8:67624073-67625050	K562	blood:	n/a	n/a
42	POLR2A	chr8:67624540-67625374	Gliobla	brain:	n/a	n/a
43	FOXP2	chr8:67624517-67625452	PFSK-1	brain:	n/a	n/a
44	HNF4A	chr8:67624497-67625067	HepG2	liver:	n/a	chr8:67624854-67624876 chr8:67624717-67624731 chr8:67624718-67624730 chr8:67624717-67624730 chr8:67624716-67624731 chr8:67624716-67624731 chr8:67624713-67624735 chr8:67624718-67624731 chr8:67624716-67624731 chr8:67624718-67624730 chr8:67624715-67624733 chr8:67624718-67624731 chr8:67624718-67624731
45	CTCF	chr8:67624540-67624690	HPF	lung:	n/a	chr8:67624557-67624566
46	CTCF	chr8:67624520-67624670	HCPEpiC	choroid plexus:	n/a	chr8:67624557-67624566
47	TAF1	chr8:67624531-67625224	HepG2	liver:	n/a	n/a
48	HDAC2	chr8:67624450-67624858	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr8:67624582-67624830	HepG2	liver:	n/a	n/a
50	RCOR1	chr8:67624566-67625642	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:67624661-67624711	K562	blood:	n/a
2	chr8:67624648-67624698	Hepatocyte	liver:	n/a
3	chr8:67624661-67624711	SAEC	small airway:	n/a
4	chr8:67624661-67624711	GM12892	blood:	n/a
5	chr8:67624661-67624711	HAEpiC	amniotic membrane:	n/a
6	chr8:67624661-67624711	H1-hESC	embryonic stem cell:	embryo
7	chr8:67624657-67624707	HAEpiC	amniotic membrane:	n/a
8	chr8:67624657-67624707	NHDF-neo	bronchial:	n/a
9	chr8:67624648-67624698	HMEC	breast:	n/a
10	chr8:67624648-67624698	NB4	blood:	n/a
11	chr8:67624657-67624707	RPTEC	kidney:	n/a
12	chr8:67624657-67624707	ProgFib	skin:	n/a
13	chr8:67624648-67624698	HepG2	liver:	n/a
14	chr8:67624657-67624707	HNPCEpiC	eye:	n/a
15	chr8:67624661-67624711	HCT-116	colon:	n/a
16	chr8:67624661-67624711	SK-N-SH_RA	brain:	n/a
17	chr8:67624648-67624698	GM12878	blood:	n/a
18	chr8:67624657-67624707	MCF10A-Er-Src	breast:	n/a
19	chr8:67624648-67624698	AG09309	skin:	n/a
20	chr8:67624661-67624711	HRE	kidney:	n/a
21	chr8:67624648-67624698	PrEC	prostate:	n/a
22	chr8:67624648-67624698	A549	lung:	n/a
23	chr8:67624657-67624707	HUVEC	blood vessel:	n/a
24	chr8:67624661-67624711	AG09309	skin:	n/a
25	chr8:67624661-67624711	U87	brain:	n/a
26	chr8:67624661-67624711	GM12891	blood:	n/a
27	chr8:67624657-67624707	HCT-116	colon:	n/a
28	chr8:67624648-67624698	BE2_C	brain:	n/a
29	chr8:67624648-67624698	H1-hESC	embryonic stem cell:	embryo
30	chr8:67624648-67624698	MCF10A-Er-Src	breast:	n/a
31	chr8:67624661-67624711	HEK293	kidney:	embryo
32	chr8:67624661-67624711	HEEpiC	esophagus:	n/a
33	chr8:67624661-67624711	GM12878	blood:	n/a
34	chr8:67624657-67624707	PrEC	prostate:	n/a
35	chr8:67624648-67624698	HAEpiC	amniotic membrane:	n/a
36	chr8:67624661-67624711	GM06990	blood:	n/a
37	chr8:67624657-67624707	NT2-D1	testis:	n/a
38	chr8:67624648-67624698	GM06990	blood:	n/a
39	chr8:67624661-67624711	AG10803	skin:	n/a
40	chr8:67624657-67624707	LNCaP	prostate:	n/a
41	chr8:67624657-67624707	NH-A	brain:	n/a
42	chr8:67624661-67624711	AoSMC	blood vessel:	n/a
43	chr8:67624661-67624711	HepG2	liver:	n/a
44	chr8:67624657-67624707	A549	lung:	n/a
45	chr8:67624657-67624707	SAEC	small airway:	n/a
46	chr8:67624648-67624698	ovcar-3	ovarian:	n/a
47	chr8:67624648-67624698	ECC-1	luminal epithelium:	n/a
48	chr8:67624657-67624707	HEK293	kidney:	embryo
49	chr8:67624657-67624707	AG04449	skin:	fetal
50	chr8:67624657-67624707	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:67372183..67373683-chr8:67623863..67626623,2	MCF-7	breast:
2	chr8:67623840..67628206-chr8:67684536..67689963,10	MCF-7	breast:
3	chr20:26189053..26190595-chr8:67624606..67626126,2	MCF-7	breast:
4	chr17:57914557..57916276-chr8:67623199..67625243,2	MCF-7	breast:
5	chr8:67577155..67579623-chr8:67622850..67626306,3	K562	blood:
6	chr8:67574105..67581178-chr8:67622567..67628099,10	MCF-7	breast:
7	chr17:56707749..56710689-chr8:67623590..67625646,2	MCF-7	breast:
8	chr8:67588205..67591074-chr8:67623136..67626196,3	MCF-7	breast:
9	chr8:67623721..67625749-chr8:67972006..67974731,3	MCF-7	breast:
10	chr8:67521707..67525650-chr8:67623825..67627698,8	MCF-7	breast:
11	chr8:67624145..67628067-chr8:67684003..67690579,11	MCF-7	breast:

Variant related genes	Relation type
SGK3	TF binding region
SGK3	CpG island
ENSG00000185697	Chromatin interaction
ENSG00000213865	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000104205	Chromatin interaction
ENSG00000270024	Chromatin interaction
ENSG00000175073	Chromatin interaction
ENSG00000169085	Chromatin interaction
ENSG00000227195	Chromatin interaction
ENSG00000104218	Chromatin interaction
ENSG00000121022	Chromatin interaction
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10504393	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11985572	1.00[CEU][hapmap]
rs11986831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11987253	1.00[EUR][1000 genomes]
rs11987254	1.00[EUR][1000 genomes]
rs11987271	0.96[EUR][1000 genomes]
rs11987311	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11990322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11990331	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[EUR][1000 genomes]
rs11990461	1.00[CEU][hapmap]
rs11990636	1.00[CEU][hapmap]
rs11992252	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992295	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11993306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs11993354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11994827	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11995031	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11995253	0.81[EUR][1000 genomes]
rs11995256	1.00[CEU][hapmap]
rs11995291	0.85[EUR][1000 genomes]
rs11996861	1.00[CEU][hapmap]
rs11997260	1.00[CEU][hapmap]
rs11997554	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11997967	1.00[CEU][hapmap]
rs11998194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11998301	1.00[CEU][hapmap]
rs12114734	1.00[CEU][hapmap]
rs12114868	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16932983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs16932985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs16932996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16933013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16933026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16933032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16933034	1.00[CEU][hapmap]
rs16933036	1.00[CEU][hapmap]
rs16933039	1.00[CEU][hapmap]
rs16933057	1.00[CEU][hapmap]
rs16933060	1.00[CEU][hapmap]
rs16933065	1.00[CEU][hapmap]
rs16933071	1.00[CEU][hapmap]
rs16933079	1.00[CEU][hapmap]
rs16933080	1.00[CEU][hapmap]
rs16933092	1.00[CEU][hapmap]
rs16933094	1.00[CEU][hapmap]
rs16933097	1.00[CEU][hapmap]
rs1864606	0.81[ASN][1000 genomes]
rs2358000	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs28417755	0.81[ASN][1000 genomes]
rs28432871	0.85[EUR][1000 genomes]
rs28572179	0.85[EUR][1000 genomes]
rs28589429	0.85[EUR][1000 genomes]
rs28720946	0.81[ASN][1000 genomes]
rs34301114	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35078037	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35353562	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35517376	1.00[CEU][hapmap]
rs3808602	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3824258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs3857962	1.00[CEU][hapmap]
rs3913346	1.00[CEU][hapmap]
rs3929419	1.00[CEU][hapmap]
rs4345540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4534119	1.00[CEU][hapmap]
rs56682762	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56742359	0.85[EUR][1000 genomes]
rs56810217	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56911449	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57125106	0.96[EUR][1000 genomes]
rs57351080	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57858031	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58454063	0.85[EUR][1000 genomes]
rs58806068	0.85[EUR][1000 genomes]
rs59058682	0.82[ASN][1000 genomes]
rs59089124	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59410806	1.00[EUR][1000 genomes]
rs59643912	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60165103	0.81[EUR][1000 genomes]
rs60655524	0.80[EUR][1000 genomes]
rs60784079	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61469007	0.85[EUR][1000 genomes]
rs61589642	0.82[ASN][1000 genomes]
rs6472285	1.00[CEU][hapmap]
rs6982202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs6982407	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6983632	1.00[CEU][hapmap]
rs6984447	1.00[CEU][hapmap]
rs6985273	1.00[CEU][hapmap]
rs6986439	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986940	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs6987665	1.00[CEU][hapmap]
rs6988670	0.85[EUR][1000 genomes]
rs6991992	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6998252	1.00[CEU][hapmap]
rs6998505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6998718	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6998777	1.00[CEU][hapmap]
rs7002479	1.00[CEU][hapmap]
rs7003548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7008740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[EUR][1000 genomes]
rs7015619	1.00[CEU][hapmap]
rs7017471	1.00[CEU][hapmap]
rs73248113	0.85[EUR][1000 genomes]
rs73248122	0.85[EUR][1000 genomes]
rs73248134	0.85[EUR][1000 genomes]
rs73248138	0.85[EUR][1000 genomes]
rs73250233	1.00[EUR][1000 genomes]
rs73250238	1.00[EUR][1000 genomes]
rs73250241	1.00[EUR][1000 genomes]
rs73250244	1.00[EUR][1000 genomes]
rs73250249	1.00[EUR][1000 genomes]
rs73250250	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250252	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250262	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73251887	1.00[EUR][1000 genomes]
rs73253909	1.00[EUR][1000 genomes]
rs73253915	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73253964	0.82[ASN][1000 genomes]
rs73253968	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73261704	0.85[EUR][1000 genomes]
rs73261763	0.85[EUR][1000 genomes]
rs73261767	0.85[EUR][1000 genomes]
rs7820420	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs7828492	0.85[EUR][1000 genomes]
rs7830436	0.85[EUR][1000 genomes]
rs7840192	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7844944	0.85[EUR][1000 genomes]
rs979679	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67623600-67624800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:67623600-67624800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr8:67623800-67624800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr8:67623800-67624800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:67623800-67626200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:67624000-67624800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
7	chr8:67624000-67624800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr8:67624000-67624800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:67624000-67624800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr8:67624000-67624800	Flanking Active TSS	Dnd41	blood
11	chr8:67624000-67624800	Flanking Active TSS	HUVEC	blood vessel
12	chr8:67624000-67626000	Active TSS	Duodenum Mucosa	Duodenum
13	chr8:67624000-67626400	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr8:67624000-67626400	Active TSS	Fetal Kidney	kidney
15	chr8:67624200-67624800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:67624200-67624800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:67624200-67624800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:67624200-67624800	Flanking Active TSS	GM12878-XiMat	blood
19	chr8:67624200-67624800	Flanking Active TSS	HMEC	breast
20	chr8:67624200-67625600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr8:67624200-67625600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr8:67624200-67625600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr8:67624200-67625800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:67624200-67626000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:67624200-67626000	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr8:67624200-67626000	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr8:67624200-67626200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr8:67624200-67626200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr8:67624200-67626200	Active TSS	HSMMtube	muscle
30	chr8:67624200-67626400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr8:67624200-67626400	Active TSS	Primary T cells from cord blood	blood
32	chr8:67624200-67626400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:67624200-67626400	Active TSS	Brain Germinal Matrix	brain
34	chr8:67624200-67626400	Active TSS	Right Atrium	heart
35	chr8:67624200-67626400	Active TSS	Stomach Smooth Muscle	stomach
36	chr8:67624400-67624800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr8:67624400-67624800	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr8:67624400-67624800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr8:67624400-67624800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:67624400-67624800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:67624400-67624800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr8:67624400-67624800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr8:67624400-67624800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:67624400-67624800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:67624400-67624800	Flanking Active TSS	Colonic Mucosa	Colon
46	chr8:67624400-67624800	Flanking Active TSS	Fetal Brain Female	brain
47	chr8:67624400-67624800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr8:67624400-67624800	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr8:67624400-67624800	Flanking Active TSS	Placenta	Placenta
50	chr8:67624400-67624800	Flanking Active TSS	Fetal Thymus	thymus

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