Variant report

Variant	rs1247570
Chromosome Location	chr6:161208957-161208958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1084656	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1084658	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11060	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11902	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247513	0.82[ASN][1000 genomes]
rs1247541	0.90[ASN][1000 genomes]
rs1247551	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247552	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247553	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1247554	0.90[ASN][1000 genomes]
rs1247555	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247556	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247557	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247558	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247561	1.00[ASN][1000 genomes]
rs1247562	1.00[ASN][1000 genomes]
rs1247563	1.00[ASN][1000 genomes]
rs1247568	1.00[ASN][1000 genomes]
rs1406890	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1406891	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1614840	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1615527	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1620921	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1621801	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1652455	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1652463	0.90[ASN][1000 genomes]
rs1652471	0.90[ASN][1000 genomes]
rs1652482	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1652499	0.90[ASN][1000 genomes]
rs1652500	0.90[ASN][1000 genomes]
rs1652502	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1740432	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1740442	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1740443	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1740444	1.00[ASN][1000 genomes]
rs1740446	0.87[EUR][1000 genomes]
rs1830524	0.90[ASN][1000 genomes]
rs1937485	0.82[ASN][1000 genomes]
rs2802356	0.82[ASN][1000 genomes]
rs28711930	0.90[ASN][1000 genomes]
rs6690	0.86[EUR][1000 genomes]
rs783156	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783159	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783160	0.90[ASN][1000 genomes]
rs783161	0.90[ASN][1000 genomes]
rs783162	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783164	0.90[ASN][1000 genomes]
rs783168	0.91[EUR][1000 genomes]
rs783169	0.92[EUR][1000 genomes]
rs783171	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783173	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783174	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783175	0.82[ASN][1000 genomes]
rs783177	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783178	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783180	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783182	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9355844	0.90[ASN][1000 genomes]
rs9456598	0.90[ASN][1000 genomes]
rs9458048	0.90[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	chr6:161208200-161211200	Weak transcription	K562	blood
8	chr6:161208800-161209000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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