Variant report

Variant	rs11676135
Chromosome Location	chr2:62768351-62768352
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:13)

rs_ID	r²[population]
rs10496097	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11678340	0.86[CHB][hapmap]
rs1527961	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17025438	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17025634	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054837	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35899032	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4630756	0.92[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68051232	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs720193	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs720194	0.86[ASN][1000 genomes]
rs7576389	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7579032	0.90[CHB][hapmap];0.95[ASN][1000 genomes]

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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62763400-62772800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:62764000-62770200	Enhancers	Fetal Intestine Small	intestine
3	chr2:62764800-62772000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:62766000-62768800	Enhancers	Duodenum Mucosa	Duodenum
5	chr2:62766000-62769400	Enhancers	Fetal Intestine Large	intestine
6	chr2:62766600-62768600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:62766600-62769400	Enhancers	Liver	Liver
8	chr2:62766800-62768600	Enhancers	Ovary	ovary
9	chr2:62766800-62769000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr2:62766800-62769200	Enhancers	Stomach Mucosa	stomach
11	chr2:62767000-62768400	Enhancers	Osteobl	bone
12	chr2:62767400-62768400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:62767400-62768400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:62767400-62769000	Enhancers	Adipose Nuclei	Adipose
15	chr2:62767600-62768400	Enhancers	Gastric	stomach
16	chr2:62767600-62768400	Enhancers	Small Intestine	intestine
17	chr2:62767600-62769000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:62767600-62769800	Weak transcription	NHEK	skin
19	chr2:62767600-62772800	Weak transcription	NHDF-Ad	bronchial
20	chr2:62767800-62769000	Enhancers	A549	lung
21	chr2:62767800-62769200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:62767800-62769800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:62768000-62768400	Enhancers	Pancreas	Pancrea
24	chr2:62768000-62769000	Enhancers	Fetal Lung	lung
25	chr2:62768000-62769200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:62768000-62770000	Enhancers	HepG2	liver
27	chr2:62768200-62768400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:62768200-62769200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:62768200-62769600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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