Variant report

Variant	rs11992605
Chromosome Location	chr8:67867778-67867779
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	KAP1	chr8:67867454-67867924	U2OS	brain:	n/a	n/a
2	RCOR1	chr8:67867504-67867800	K562	blood:	n/a	n/a
3	FOXA1	chr8:67867609-67867786	T-47D	breast:	n/a	n/a
4	FOXA2	chr8:67867621-67867800	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:67837676..67839511-chr8:67865946..67868529,3	K562	blood:
2	chr8:67867527..67869125-chr8:67873493..67876349,2	K562	blood:
3	chr8:67866883..67869231-chr8:67974274..67977139,2	K562	blood:

Variant related genes	Relation type
TCF24	TF binding region
ENSG00000121022	Chromatin interaction
ENSG00000261787	Chromatin interaction
ENSG00000245910	Chromatin interaction
ENSG00000104218	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1138476	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs11557200	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11985037	1.00[CEU][hapmap]
rs11985572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11986053	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988464	0.85[AFR][1000 genomes]
rs11988465	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11989855	1.00[CEU][hapmap]
rs11990461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11990636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs11992626	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs11995256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11997189	1.00[CEU][hapmap]
rs11997260	1.00[CEU][hapmap]
rs11997404	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.85[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997967	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12114202	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12114734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.84[ASN][1000 genomes]
rs16919053	0.90[EUR][1000 genomes]
rs16933057	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16933060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap]
rs16933065	1.00[CEU][hapmap]
rs16933071	1.00[CEU][hapmap]
rs16933079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.84[ASN][1000 genomes]
rs16933080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16933092	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs16933094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap]
rs16933097	1.00[CEU][hapmap];0.88[LWK][hapmap];0.84[MKK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs16933106	1.00[JPT][hapmap]
rs16933125	1.00[CEU][hapmap]
rs16933132	1.00[JPT][hapmap]
rs16933138	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];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933139	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];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933147	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933148	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs16933160	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16933162	1.00[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];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933170	1.00[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];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933173	1.00[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];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933182	0.97[EUR][1000 genomes]
rs16933190	0.95[EUR][1000 genomes]
rs2168542	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2290585	0.95[EUR][1000 genomes]
rs2305672	0.90[EUR][1000 genomes]
rs2305673	1.00[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];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28547325	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35517376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs35809374	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3779995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3780131	0.90[EUR][1000 genomes]
rs4534119	1.00[CEU][hapmap]
rs4592015	1.00[JPT][hapmap]
rs55662680	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55745066	0.95[EUR][1000 genomes]
rs55865037	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55983978	0.90[EUR][1000 genomes]
rs56345609	0.84[ASN][1000 genomes]
rs57101332	0.90[EUR][1000 genomes]
rs57867847	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58448590	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59335949	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59634730	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60666237	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60894518	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61085456	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6472285	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6472289	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6651278	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6982699	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6983632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs6984447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6984568	1.00[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];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984597	1.00[JPT][hapmap]
rs6984650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6985273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6987597	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987624	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990298	1.00[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];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6991974	0.90[EUR][1000 genomes]
rs6998170	1.00[JPT][hapmap]
rs6998290	1.00[JPT][hapmap]
rs6998777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7000650	1.00[JPT][hapmap]
rs7002479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap]
rs7003018	1.00[JPT][hapmap]
rs7004549	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs7005014	1.00[JPT][hapmap]
rs7009678	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7015619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7017471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs73691182	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691185	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691186	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691192	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691193	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693124	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693135	0.84[EUR][1000 genomes]
rs73693615	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73693631	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73693632	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7461383	1.00[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];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812425	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812510	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7815142	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7815863	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7816827	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7819894	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7819895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7820403	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7824775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7828748	1.00[JPT][hapmap]
rs7833373	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833956	1.00[JPT][hapmap]
rs7834516	0.95[EUR][1000 genomes]
rs7841884	1.00[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];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842770	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs979679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433426	chr8:67859447-67876356	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67867200-67868600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr8:67867200-67869000	Enhancers	Fetal Heart	heart
3	chr8:67867400-67867800	Flanking Active TSS	Hela-S3	cervix
4	chr8:67867400-67867800	Flanking Active TSS	HepG2	liver
5	chr8:67867400-67867800	Flanking Active TSS	K562	blood
6	chr8:67867400-67868000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr8:67867600-67867800	Enhancers	Stomach Mucosa	stomach
8	chr8:67867600-67867800	Flanking Active TSS	A549	lung

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