Variant report

Variant	rs56063375
Chromosome Location	chr2:231095952-231095953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11679983	1.00[ASN][1000 genomes]
rs11687292	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17263269	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17329429	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17329583	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56334214	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[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:22 , 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	chr2:231094400-231096800	ZNF genes & repeats	GM12878-XiMat	blood
6	chr2:231094600-231096000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:231094600-231096200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
8	chr2:231094600-231096400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
9	chr2:231094800-231096000	ZNF genes & repeats	Primary B cells from cord blood	blood
10	chr2:231094800-231096000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
11	chr2:231094800-231096000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:231094800-231096400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
13	chr2:231095000-231096200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:231095000-231096400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
15	chr2:231095200-231096200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
16	chr2:231095200-231096400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:231095400-231096000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr2:231095400-231096800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:231095400-231097000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:231095800-231096000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:231095800-231096200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:231095800-231096600	Enhancers	NH-A	brain

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