Variant report

Variant	rs16867422
Chromosome Location	chr2:182257146-182257147
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10178445	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10183522	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10497578	0.80[ASN][1000 genomes]
rs16867404	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs16867407	0.80[ASN][1000 genomes]
rs16867409	0.81[ASN][1000 genomes]
rs16867411	0.82[ASN][1000 genomes]
rs16867412	0.82[ASN][1000 genomes]
rs16867414	0.82[EUR][1000 genomes]
rs16867415	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16867417	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16867418	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16867421	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16867424	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2219754	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4627521	0.80[ASN][1000 genomes]
rs56144959	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57112009	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59403061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60453369	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60481141	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61097715	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182238000-182258200	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr2:182240000-182257400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:182241600-182258200	Weak transcription	Fetal Thymus	thymus
4	chr2:182255800-182258200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:182256600-182257200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:182256800-182257200	Enhancers	NHDF-Ad	bronchial
7	chr2:182257000-182257200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr2:182257000-182257200	Enhancers	Small Intestine	intestine
9	chr2:182257000-182257200	Enhancers	NHEK	skin
10	chr2:182257000-182257400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:182257000-182257600	Enhancers	HMEC	breast

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