Variant report

Variant	rs11676434
Chromosome Location	chr2:62796730-62796731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11678340	0.86[CHB][hapmap]
rs1527961	0.81[ASN][1000 genomes]
rs2054837	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs35899032	0.83[AMR][1000 genomes]
rs4630756	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs720193	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs720194	0.93[ASN][1000 genomes]
rs7576389	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7579032	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv834226	chr2:62745027-62894013	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3336776	chr2:62747914-62813461	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv874232	chr2:62758044-62906084	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv834237	chr2:62762743-62926036	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62793000-62798000	Weak transcription	NHLF	lung
2	chr2:62794400-62798000	Weak transcription	HUVEC	blood vessel
3	chr2:62794600-62797600	Enhancers	Fetal Intestine Small	intestine
4	chr2:62794800-62796800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:62794800-62796800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:62794800-62797400	Enhancers	Hela-S3	cervix
7	chr2:62795000-62796800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:62795200-62797000	Enhancers	Fetal Intestine Large	intestine
9	chr2:62795400-62797200	Weak transcription	Ovary	ovary
10	chr2:62795400-62797200	Weak transcription	Pancreas	Pancrea
11	chr2:62795400-62797200	Weak transcription	Spleen	Spleen
12	chr2:62795400-62797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:62795400-62798000	Weak transcription	Adipose Nuclei	Adipose
14	chr2:62795600-62797200	Flanking Active TSS	A549	lung
15	chr2:62795600-62798000	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:62795600-62798000	Weak transcription	Right Atrium	heart
17	chr2:62796000-62798600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:62796200-62798800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr2:62796400-62796800	Flanking Bivalent TSS/Enh	HepG2	liver
20	chr2:62796400-62797000	Enhancers	NHDF-Ad	bronchial
21	chr2:62796400-62797200	Flanking Active TSS	Liver	Liver
22	chr2:62796400-62797200	Enhancers	Fetal Kidney	kidney
23	chr2:62796400-62797600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:62796400-62797600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr2:62796600-62796800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:62796600-62796800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:62796600-62796800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:62796600-62796800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:62796600-62796800	Enhancers	Duodenum Mucosa	Duodenum
30	chr2:62796600-62796800	Enhancers	HMEC	breast
31	chr2:62796600-62797000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:62796600-62797000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:62796600-62797000	Enhancers	Osteobl	bone
34	chr2:62796600-62797200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
35	chr2:62796600-62797400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:62796600-62798000	Enhancers	NHEK	skin

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