Variant report

Variant	rs10254295
Chromosome Location	chr7:12867836-12867837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12867009..12868914-chr7:12869062..12871956,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10230511	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs10238367	0.93[ASN][1000 genomes]
rs10240689	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10256191	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10259240	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10259524	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12669053	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1476815	0.90[CEU][hapmap]
rs17166415	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17166416	0.97[ASN][1000 genomes]
rs17619124	0.96[ASN][1000 genomes]
rs17619626	0.92[EUR][1000 genomes]
rs17681457	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1978246	1.00[CEU][hapmap]
rs2191266	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2191267	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2215337	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2356698	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2357046	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2357053	0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs2884084	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28873158	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4288268	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4480006	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4721148	0.96[CEU][hapmap];0.87[CHB][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55991971	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56082010	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62448164	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6460980	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66817397	0.90[EUR][1000 genomes]
rs6942839	0.94[ASN][1000 genomes]
rs6944255	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6947361	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6948576	1.00[CEU][hapmap]
rs6949476	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6959850	0.84[EUR][1000 genomes]
rs6965712	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6978013	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs758676	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs7783477	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7787464	0.82[EUR][1000 genomes]
rs7787728	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7791902	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793560	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7793747	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7795573	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7800218	0.83[CHB][hapmap]
rs7808814	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1027806	chr7:12842708-12875714	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12861200-12868600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:12861800-12871200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:12867000-12868000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:12867200-12868000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:12867200-12868200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:12867200-12868200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:12867200-12868400	Enhancers	NHEK	skin
8	chr7:12867400-12868200	Enhancers	Stomach Mucosa	stomach
9	chr7:12867600-12873400	Weak transcription	Pancreas	Pancrea

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