Variant report

Variant	rs12690536
Chromosome Location	chr2:231100082-231100083
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12477362	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465530	0.85[YRI][hapmap]
rs16826955	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2278197	0.84[YRI][hapmap]
rs2288328	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3813466	0.84[YRI][hapmap]
rs4973303	0.90[YRI][hapmap];0.92[AFR][1000 genomes]
rs60232929	0.98[ASN][1000 genomes]
rs6708519	0.90[AFR][1000 genomes]
rs6709625	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6720816	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7573954	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7578826	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580912	0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs9288661	0.90[YRI][hapmap];0.93[AFR][1000 genomes]
rs9288662	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288663	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	nsv584666	chr2:231050715-231106621	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231090200-231170000	Weak transcription	Spleen	Spleen
2	chr2:231091000-231102600	Weak transcription	Small Intestine	intestine
3	chr2:231092600-231118400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:231093200-231113000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:231096000-231101600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:231096000-231102600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:231096200-231101600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:231096400-231100200	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr2:231097600-231101200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:231098000-231108200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:231098200-231100200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:231098400-231100200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr2:231098600-231100400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:231098600-231107400	Strong transcription	Primary B cells from cord blood	blood
15	chr2:231098800-231100200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:231099200-231101800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:231099200-231109000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:231099400-231118000	Weak transcription	Primary T cells from cord blood	blood
19	chr2:231099600-231100200	Enhancers	NH-A	brain
20	chr2:231099600-231107400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr2:231099800-231101000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:231099800-231101800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:231099800-231106200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:231100000-231100200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:231100000-231100200	Flanking Active TSS	GM12878-XiMat	blood
26	chr2:231100000-231101200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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