Variant report

Variant	rs12994674
Chromosome Location	chr2:62996645-62996646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10153716	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11682530	0.87[ASN][1000 genomes]
rs11688816	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12713467	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12713468	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12989754	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13013218	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1420018	0.89[ASN][1000 genomes]
rs1553832	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1828398	0.89[AFR][1000 genomes]
rs189671	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2058566	0.88[ASN][1000 genomes]
rs2080227	0.81[AFR][1000 genomes]
rs2136737	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2215870	0.88[ASN][1000 genomes]
rs2430388	0.85[ASN][1000 genomes]
rs2539980	0.84[ASN][1000 genomes]
rs2539985	0.88[ASN][1000 genomes]
rs2710638	0.88[ASN][1000 genomes]
rs2710640	0.88[ASN][1000 genomes]
rs2710642	0.88[ASN][1000 genomes]
rs34104251	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs360799	0.89[ASN][1000 genomes]
rs360800	0.89[ASN][1000 genomes]
rs360801	0.89[ASN][1000 genomes]
rs360804	0.89[ASN][1000 genomes]
rs360807	0.86[ASN][1000 genomes]
rs3927201	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4461246	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4671050	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4671051	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4671450	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6545971	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7562149	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7562734	0.89[ASN][1000 genomes]
rs7573756	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9678329	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9973612	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62953600-63001200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:62958200-63010200	Weak transcription	Primary B cells from cord blood	blood
3	chr2:62961200-63011600	Weak transcription	NHLF	lung
4	chr2:62967000-62997000	Weak transcription	Dnd41	blood
5	chr2:62974200-63017200	Weak transcription	Primary T cells from cord blood	blood
6	chr2:62982200-63009800	Weak transcription	Fetal Intestine Small	intestine
7	chr2:62982200-63033400	Weak transcription	Fetal Intestine Large	intestine
8	chr2:62982400-63006200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:62984400-63009800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:62987800-63001600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:62988000-62997800	Weak transcription	NHEK	skin
12	chr2:62988000-63009600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:62988000-63010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:62988000-63012400	Weak transcription	HSMM	muscle
15	chr2:62988200-63012400	Weak transcription	HMEC	breast
16	chr2:62990800-62998400	Weak transcription	Liver	Liver
17	chr2:62991400-62997800	Weak transcription	Fetal Lung	lung
18	chr2:62991400-63000000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:62991600-62999600	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:62991800-63003200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:62992200-63001600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:62992800-62999400	Weak transcription	A549	lung
23	chr2:62993000-62997000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:62993400-62998400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:62993400-63001800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:62993400-63007000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:62993600-63001200	Weak transcription	Ovary	ovary
28	chr2:62993600-63004800	Weak transcription	Adipose Nuclei	Adipose
29	chr2:62994400-63001600	Weak transcription	NHDF-Ad	bronchial
30	chr2:62994800-63010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:62995200-63000200	Strong transcription	HepG2	liver
32	chr2:62995400-63000600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:62995600-63002000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:62995800-63001600	Weak transcription	Osteobl	bone
35	chr2:62996200-62999400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:62996400-62998800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:62996400-63001600	Weak transcription	NH-A	brain
38	chr2:62996600-62997200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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