Variant report

Variant	rs4682292
Chromosome Location	chr3:111346317-111346318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11707702	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13078891	0.86[ASN][1000 genomes]
rs13086157	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1553970	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1606503	0.89[ASN][1000 genomes]
rs2036995	0.84[AFR][1000 genomes]
rs4682052	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4682295	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv997756	chr3:111226058-111376585	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111338600-111347800	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr3:111341200-111346800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:111341400-111347800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:111341800-111347600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr3:111342000-111348000	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr3:111342400-111346800	Strong transcription	Primary B cells from peripheral blood	blood
7	chr3:111342600-111347600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
8	chr3:111342800-111346800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr3:111343200-111347800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:111344800-111346800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:111345200-111347600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:111345600-111347800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr3:111345800-111346400	Enhancers	HMEC	breast
14	chr3:111345800-111346600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:111345800-111346600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:111345800-111347000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:111345800-111347800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr3:111345800-111348600	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr3:111346000-111346400	Enhancers	NHEK	skin
20	chr3:111346000-111346600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:111346000-111346600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:111346000-111346600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:111346000-111346800	ZNF genes & repeats	Thymus	Thymus
24	chr3:111346000-111347000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:111346000-111347200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr3:111346000-111347800	Strong transcription	Fetal Thymus	thymus
27	chr3:111346000-111348200	ZNF genes & repeats	Dnd41	blood

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