Variant report

Variant	rs2191266
Chromosome Location	chr7:12904959-12904960
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12904253..12905938-chr7:12915770..12918600,2	K562	blood:
2	chr7:12904248..12906167-chr7:12913561..12916450,2	K562	blood:

Variant related genes	Relation type
ENSG00000222974	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10230511	0.95[CHB][hapmap];0.91[ASN][1000 genomes]
rs10238367	0.87[ASN][1000 genomes]
rs10240689	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10254295	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10256191	0.84[EUR][1000 genomes]
rs10259240	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10259524	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12669053	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1476815	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs17166415	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17166416	0.91[ASN][1000 genomes]
rs17619124	0.90[ASN][1000 genomes]
rs17619626	0.87[EUR][1000 genomes]
rs17681457	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1978246	1.00[CEU][hapmap]
rs2191267	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2215337	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2356698	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2357046	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2357053	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2884084	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28873158	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4288268	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4480006	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4721148	0.95[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs55991971	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56082010	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62448164	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6460980	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66817397	0.89[EUR][1000 genomes]
rs6942839	0.91[ASN][1000 genomes]
rs6944255	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6947361	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6948576	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs6949476	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6959850	0.88[EUR][1000 genomes]
rs6965712	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6978013	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs758676	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7783477	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7787464	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7787728	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7791902	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7793560	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7793747	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7795573	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7808814	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	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
6	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
7	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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12901200-12905000	Weak transcription	K562	blood
2	chr7:12901200-12905400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:12901200-12905400	Weak transcription	Fetal Kidney	kidney
4	chr7:12903200-12906200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:12903600-12905400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:12903600-12905400	Enhancers	Esophagus	oesophagus
7	chr7:12903600-12905600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:12903600-12905600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:12903600-12906200	Enhancers	HMEC	breast
10	chr7:12904600-12906000	Enhancers	NHEK	skin
11	chr7:12904600-12906800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:12904800-12905600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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