Variant report

Variant	rs12476438
Chromosome Location	chr2:190170298-190170299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10191420	1.00[JPT][hapmap]
rs11884504	0.80[ASN][1000 genomes]
rs12468002	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12473931	0.80[ASN][1000 genomes]
rs1515868	0.80[ASN][1000 genomes]
rs6414124	0.86[ASN][1000 genomes]
rs6723725	1.00[JPT][hapmap]
rs7560722	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190159800-190170800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:190160000-190170400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:190160000-190171000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:190160200-190171200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr2:190162600-190171600	Enhancers	Primary T cells from cord blood	blood
6	chr2:190163000-190171800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr2:190163400-190170800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:190165800-190171200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:190165800-190171400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr2:190166200-190171800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:190167200-190171000	Weak transcription	Stomach Mucosa	stomach
12	chr2:190168400-190176200	Weak transcription	Pancreas	Pancrea
13	chr2:190169000-190170400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr2:190169000-190170600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:190169200-190171400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:190169400-190171000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:190169800-190170600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:190169800-190170600	Enhancers	HMEC	breast
19	chr2:190169800-190174000	Weak transcription	Dnd41	blood
20	chr2:190170000-190170400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:190170000-190170400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:190170000-190170400	Enhancers	HUVEC	blood vessel
23	chr2:190170000-190170600	Enhancers	NHEK	skin
24	chr2:190170000-190170800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:190170000-190170800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:190170200-190170600	Enhancers	NHDF-Ad	bronchial
27	chr2:190170200-190171000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:190170200-190176400	Weak transcription	Fetal Thymus	thymus

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