Variant report

Variant	rs10185385
Chromosome Location	chr2:231152983-231152984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10164566	0.87[YRI][hapmap]
rs10174828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10174945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10197151	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs10200975	1.00[AMR][1000 genomes]
rs10208536	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13382790	1.00[AMR][1000 genomes]
rs13384496	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs13395963	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs13404885	1.00[AMR][1000 genomes]
rs4343458	0.83[YRI][hapmap]
rs6743287	1.00[AMR][1000 genomes]
rs6761254	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs9653377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231090200-231170000	Weak transcription	Spleen	Spleen
2	chr2:231128200-231166000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:231136400-231158400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:231136600-231157600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:231146000-231160600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:231147200-231165400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr2:231147800-231182400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:231148200-231160600	Strong transcription	Primary B cells from cord blood	blood
9	chr2:231148800-231161000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:231149800-231160800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:231149800-231161000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:231150000-231156800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:231151200-231153400	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:231151400-231153200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:231151800-231153000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:231151800-231154000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:231152600-231153000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:231152600-231153000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:231152600-231153000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:231152800-231153200	Flanking Active TSS	GM12878-XiMat	blood
21	chr2:231152800-231161200	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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