Variant report

Variant	rs62178044
Chromosome Location	chr2:62768796-62768797
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10496098	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11900958	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1527962	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17516315	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17516336	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17516489	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17575420	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17575679	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2901483	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56185926	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56390862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62178040	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62178041	0.81[EUR][1000 genomes]
rs62178045	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62178046	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62178047	0.97[AMR][1000 genomes];0.94[EUR][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:28 , 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	chr2:62766600-62769400	Enhancers	Liver	Liver
7	chr2:62766800-62769000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr2:62766800-62769200	Enhancers	Stomach Mucosa	stomach
9	chr2:62767400-62769000	Enhancers	Adipose Nuclei	Adipose
10	chr2:62767600-62769000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:62767600-62769800	Weak transcription	NHEK	skin
12	chr2:62767600-62772800	Weak transcription	NHDF-Ad	bronchial
13	chr2:62767800-62769000	Enhancers	A549	lung
14	chr2:62767800-62769200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:62767800-62769800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:62768000-62769000	Enhancers	Fetal Lung	lung
17	chr2:62768000-62769200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:62768000-62770000	Enhancers	HepG2	liver
19	chr2:62768200-62769200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:62768200-62769600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:62768400-62769000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:62768400-62769000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:62768400-62769200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:62768400-62772400	Weak transcription	Gastric	stomach
25	chr2:62768400-62772400	Weak transcription	Pancreas	Pancrea
26	chr2:62768400-62774800	Weak transcription	Osteobl	bone
27	chr2:62768600-62770000	Weak transcription	Ovary	ovary
28	chr2:62768600-62772600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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