Variant report

Variant	rs4508619
Chromosome Location	chr2:151138651-151138652
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10165225	1.00[EUR][1000 genomes]
rs10165666	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10173947	1.00[EUR][1000 genomes]
rs10209398	1.00[EUR][1000 genomes]
rs1036793	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11693655	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888189	1.00[EUR][1000 genomes]
rs11895581	1.00[EUR][1000 genomes]
rs11899312	1.00[EUR][1000 genomes]
rs12623971	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12692649	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394286	1.00[EUR][1000 genomes]
rs1372431	0.83[EUR][1000 genomes]
rs1372432	0.83[EUR][1000 genomes]
rs1372433	0.83[EUR][1000 genomes]
rs1372435	0.83[EUR][1000 genomes]
rs1372436	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1441969	0.83[EUR][1000 genomes]
rs16828061	0.83[EUR][1000 genomes]
rs16828069	0.83[EUR][1000 genomes]
rs1899375	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2334315	0.98[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35956280	0.83[EUR][1000 genomes]
rs3924622	0.83[EUR][1000 genomes]
rs4233802	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4362583	1.00[EUR][1000 genomes]
rs4366927	0.97[EUR][1000 genomes]
rs4402789	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4404295	1.00[EUR][1000 genomes]
rs4414701	0.83[EUR][1000 genomes]
rs4425094	1.00[EUR][1000 genomes]
rs4425095	1.00[EUR][1000 genomes]
rs4491744	0.91[EUR][1000 genomes]
rs4522630	0.83[EUR][1000 genomes]
rs4544461	0.83[EUR][1000 genomes]
rs4563247	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4566385	0.83[EUR][1000 genomes]
rs4577299	1.00[EUR][1000 genomes]
rs4585053	1.00[EUR][1000 genomes]
rs4589785	1.00[EUR][1000 genomes]
rs4600678	0.83[EUR][1000 genomes]
rs4603783	0.83[EUR][1000 genomes]
rs4606957	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4664428	0.83[EUR][1000 genomes]
rs62167367	1.00[EUR][1000 genomes]
rs62167369	1.00[EUR][1000 genomes]
rs6727491	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6731304	0.83[EUR][1000 genomes]
rs6740399	0.83[EUR][1000 genomes]
rs6741918	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6748737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761282	0.83[EUR][1000 genomes]
rs6761697	1.00[EUR][1000 genomes]
rs734135	0.83[EUR][1000 genomes]
rs7560459	0.97[EUR][1000 genomes]
rs7563730	1.00[EUR][1000 genomes]
rs7564257	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564743	1.00[EUR][1000 genomes]
rs7608140	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7608904	0.83[EUR][1000 genomes]
rs9287819	1.00[EUR][1000 genomes]
rs9287820	0.94[EUR][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	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 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	chr2:151135600-151140000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:151135800-151140200	Enhancers	Adipose Nuclei	Adipose
3	chr2:151135800-151140800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:151136000-151140000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:151136000-151140000	Enhancers	NHDF-Ad	bronchial
6	chr2:151137000-151138800	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:151137000-151139000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:151137200-151138800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:151137400-151139000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:151137400-151139400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:151137400-151143000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:151137400-151143000	Weak transcription	Osteobl	bone
13	chr2:151137800-151138800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:151137800-151139000	Enhancers	Left Ventricle	heart
15	chr2:151137800-151140000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:151137800-151141000	Enhancers	Fetal Muscle Leg	muscle
17	chr2:151138400-151138800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:151138400-151139000	Enhancers	Spleen	Spleen
19	chr2:151138400-151139000	Enhancers	HMEC	breast
20	chr2:151138400-151139200	Enhancers	Psoas Muscle	Psoas
21	chr2:151138400-151139400	Enhancers	NHLF	lung
22	chr2:151138400-151140000	Enhancers	HSMMtube	muscle
23	chr2:151138400-151140600	Enhancers	Liver	Liver
24	chr2:151138600-151138800	Enhancers	HUVEC	blood vessel
25	chr2:151138600-151139000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr2:151138600-151139600	Weak transcription	Ovary	ovary
27	chr2:151138600-151139800	Enhancers	Fetal Lung	lung
28	chr2:151138600-151139800	Enhancers	HSMM	muscle

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