Variant report

Variant	rs12996371
Chromosome Location	chr2:174005771-174005772
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12465665	0.96[ASN][1000 genomes]
rs16861266	1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[MEX][hapmap];0.81[ASN][1000 genomes]
rs16861269	0.82[ASN][1000 genomes]
rs16861279	1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs16861295	0.80[JPT][hapmap]
rs16861304	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs2053964	1.00[CHB][hapmap];0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs2119124	0.84[CHB][hapmap]
rs3769150	1.00[CEU][hapmap]
rs3769151	1.00[CEU][hapmap]
rs3769152	1.00[CEU][hapmap]
rs3769164	0.81[CHB][hapmap]
rs3769166	0.80[JPT][hapmap]
rs3769175	0.80[JPT][hapmap]
rs3769176	0.82[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap]
rs3769179	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs3769183	0.82[CHB][hapmap]
rs3769190	0.92[ASN][1000 genomes]
rs3769206	1.00[CHB][hapmap]
rs4632313	1.00[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs56676752	0.93[ASN][1000 genomes]
rs61032750	0.85[ASN][1000 genomes]
rs7560960	1.00[CEU][hapmap]
rs7566222	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs7602751	0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173982800-174006400	Weak transcription	Fetal Lung	lung
2	chr2:173989200-174006000	Weak transcription	Primary B cells from cord blood	blood
3	chr2:173989600-174007600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:173996600-174012800	Weak transcription	Ovary	ovary
5	chr2:173996600-174013400	Weak transcription	Aorta	Aorta
6	chr2:174001600-174006000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:174001600-174012800	Weak transcription	Left Ventricle	heart
8	chr2:174001600-174013200	Weak transcription	HUVEC	blood vessel
9	chr2:174002000-174005800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:174002000-174010800	Weak transcription	NHLF	lung
11	chr2:174002000-174012800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:174002200-174005800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:174002200-174005800	Weak transcription	Dnd41	blood
14	chr2:174002200-174010200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:174002200-174012800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:174002200-174012800	Weak transcription	Osteobl	bone
17	chr2:174002200-174014600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:174002200-174014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:174002600-174006000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:174002600-174006000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:174002600-174006000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:174002800-174013000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:174003000-174006800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:174004000-174006000	Weak transcription	HMEC	breast
25	chr2:174004200-174006800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:174005200-174008000	ZNF genes & repeats	A549	lung
27	chr2:174005400-174006800	Weak transcription	Fetal Intestine Small	intestine
28	chr2:174005400-174007200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:174005400-174008600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:174005600-174012800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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