Variant report

Variant	rs12630508
Chromosome Location	chr3:134013685-134013686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10935108	0.90[EUR][1000 genomes]
rs10935109	0.90[EUR][1000 genomes]
rs10935110	0.90[EUR][1000 genomes]
rs11918596	0.89[EUR][1000 genomes]
rs11922449	0.95[ASN][1000 genomes]
rs11922472	0.95[ASN][1000 genomes]
rs12695607	0.95[ASN][1000 genomes]
rs12695608	0.95[ASN][1000 genomes]
rs4459872	0.95[ASN][1000 genomes]
rs4461395	0.95[ASN][1000 genomes]
rs4535199	0.90[EUR][1000 genomes]
rs4682659	0.82[ASN][1000 genomes]
rs6763231	0.95[ASN][1000 genomes]
rs72986487	0.93[ASN][1000 genomes]
rs7620294	0.90[EUR][1000 genomes]
rs7625988	0.83[EUR][1000 genomes]
rs7648456	0.83[EUR][1000 genomes]
rs9858570	0.95[ASN][1000 genomes]
rs9869876	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 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	chr3:134010600-134018200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:134011000-134018400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:134012000-134014000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr3:134012000-134014200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr3:134012000-134014200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr3:134012200-134014000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr3:134012200-134014200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:134012200-134014400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr3:134012400-134014000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:134012600-134014000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr3:134012800-134013800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:134012800-134014400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr3:134013000-134013800	Enhancers	Primary B cells from peripheral blood	blood
14	chr3:134013000-134013800	Enhancers	Primary hematopoietic stem cells	blood
15	chr3:134013000-134013800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr3:134013000-134013800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:134013000-134013800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:134013000-134013800	Enhancers	Dnd41	blood
19	chr3:134013000-134014000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:134013000-134014000	Flanking Active TSS	GM12878-XiMat	blood
21	chr3:134013000-134014200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr3:134013400-134013800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:134013400-134013800	Enhancers	Pancreas	Pancrea
24	chr3:134013400-134013800	Enhancers	Small Intestine	intestine
25	chr3:134013400-134014000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:134013600-134014200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr3:134013600-134014400	Enhancers	Primary T cells from cord blood	blood

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