Variant report

Variant	rs1465530
Chromosome Location	chr2:231108928-231108929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12690536	0.85[YRI][hapmap]
rs1863675	0.92[ASN][1000 genomes]
rs1966555	0.98[ASN][1000 genomes]
rs2114589	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2278197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28399164	0.99[ASN][1000 genomes]
rs3813466	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4143559	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4384773	0.91[ASN][1000 genomes]
rs4973303	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56936337	0.91[ASN][1000 genomes]
rs6436921	0.81[CHB][hapmap]
rs6708519	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580900	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7581442	0.99[ASN][1000 genomes]
rs9288660	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs9288661	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv869834	chr2:231045013-231139827	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv998291	chr2:231045388-231136278	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231090200-231170000	Weak transcription	Spleen	Spleen
2	chr2:231092600-231118400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:231093200-231113000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:231099200-231109000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:231099400-231118000	Weak transcription	Primary T cells from cord blood	blood
6	chr2:231100800-231114200	Strong transcription	GM12878-XiMat	blood
7	chr2:231101200-231114600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:231101200-231115000	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:231101800-231121600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr2:231103200-231118200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:231103800-231118200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:231104000-231117000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:231105000-231112600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:231105200-231110600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:231106200-231109000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:231106600-231109600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:231107400-231109400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:231107400-231109600	Weak transcription	Primary B cells from cord blood	blood
19	chr2:231107600-231117600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:231107600-231119600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:231108200-231109000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:231108400-231109200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:231108400-231109200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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