Variant report

Variant	rs1247567
Chromosome Location	chr6:161208297-161208298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10455783	0.92[ASN][1000 genomes]
rs10455784	0.92[ASN][1000 genomes]
rs1084653	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11756055	0.80[ASN][1000 genomes]
rs11758404	0.81[ASN][1000 genomes]
rs12194271	0.89[ASN][1000 genomes]
rs12214254	0.89[ASN][1000 genomes]
rs1247559	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1247560	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1247564	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1247565	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1247572	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12526591	0.90[ASN][1000 genomes]
rs1271391	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13192114	0.82[ASN][1000 genomes]
rs13192211	0.81[ASN][1000 genomes]
rs13203571	0.91[ASN][1000 genomes]
rs13216458	0.90[ASN][1000 genomes]
rs1344729	0.89[ASN][1000 genomes]
rs1344730	0.89[ASN][1000 genomes]
rs1344731	0.90[ASN][1000 genomes]
rs1358755	0.83[ASN][1000 genomes]
rs1367216	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1549741	0.90[ASN][1000 genomes]
rs1611873	0.93[ASN][1000 genomes]
rs1620969	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1652456	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1652481	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1652498	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1652501	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1740430	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1740431	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1740445	0.96[ASN][1000 genomes]
rs1740447	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1740466	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1782627	0.96[ASN][1000 genomes]
rs1782628	0.95[ASN][1000 genomes]
rs1782629	0.95[ASN][1000 genomes]
rs1853022	0.81[ASN][1000 genomes]
rs1965092	0.90[ASN][1000 genomes]
rs1991598	0.90[ASN][1000 genomes]
rs1991599	0.86[ASN][1000 genomes]
rs2115869	0.91[ASN][1000 genomes]
rs2115870	0.92[ASN][1000 genomes]
rs2115871	0.92[ASN][1000 genomes]
rs2144727	0.87[ASN][1000 genomes]
rs2465835	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2465836	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34797199	0.90[ASN][1000 genomes]
rs4440440	0.81[ASN][1000 genomes]
rs4708878	0.90[ASN][1000 genomes]
rs4708881	0.90[ASN][1000 genomes]
rs4708882	0.90[ASN][1000 genomes]
rs4708884	0.87[ASN][1000 genomes]
rs4708886	0.87[ASN][1000 genomes]
rs4708887	0.89[ASN][1000 genomes]
rs4708888	0.90[ASN][1000 genomes]
rs4708889	0.91[ASN][1000 genomes]
rs4708891	0.91[ASN][1000 genomes]
rs4708892	0.91[ASN][1000 genomes]
rs4708893	0.91[ASN][1000 genomes]
rs4709466	0.90[ASN][1000 genomes]
rs4709467	0.90[ASN][1000 genomes]
rs4709469	0.90[ASN][1000 genomes]
rs4709470	0.81[ASN][1000 genomes]
rs66496533	0.81[ASN][1000 genomes]
rs7450979	0.84[ASN][1000 genomes]
rs783176	0.86[EUR][1000 genomes]
rs9456586	0.90[ASN][1000 genomes]
rs9456587	0.81[ASN][1000 genomes]
rs9456588	0.83[ASN][1000 genomes]
rs9456589	0.83[ASN][1000 genomes]
rs9456590	0.81[ASN][1000 genomes]
rs9458023	0.83[ASN][1000 genomes]
rs9458025	0.90[ASN][1000 genomes]
rs9458026	0.90[ASN][1000 genomes]
rs9458030	0.88[ASN][1000 genomes]
rs9458031	0.89[ASN][1000 genomes]
rs9458035	0.81[ASN][1000 genomes]
rs9458036	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3352911	chr6:161140543-161324358	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830853	chr6:161180005-161376481	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv981309	chr6:161193505-161211503	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161207600-161209200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:161207600-161210000	Enhancers	NHEK	skin
3	chr6:161207800-161209800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:161208000-161209200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:161208000-161209400	Enhancers	HMEC	breast
6	chr6:161208000-161211200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:161208200-161208800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:161208200-161211200	Weak transcription	K562	blood

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