Variant report

Variant	rs62182067
Chromosome Location	chr2:190215108-190215109
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10174225	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10177513	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677073	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11681937	0.83[ASN][1000 genomes]
rs11684417	0.83[ASN][1000 genomes]
rs11693810	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13406671	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1464136	0.84[EUR][1000 genomes]
rs1515873	0.83[ASN][1000 genomes]
rs1519182	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1519185	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1520862	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17198780	0.81[ASN][1000 genomes]
rs17270952	0.86[ASN][1000 genomes]
rs17270966	0.81[ASN][1000 genomes]
rs17271015	0.83[ASN][1000 genomes]
rs1996576	0.83[ASN][1000 genomes]
rs2680629	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683013	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2683014	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2683015	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683016	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28413975	0.81[EUR][1000 genomes]
rs55726777	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61528955	0.83[ASN][1000 genomes]
rs62182060	0.83[ASN][1000 genomes]
rs62182061	0.83[ASN][1000 genomes]
rs62182066	0.83[ASN][1000 genomes]
rs62182068	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62182069	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62182420	0.81[ASN][1000 genomes]
rs62183846	0.83[ASN][1000 genomes]
rs62183848	0.83[ASN][1000 genomes]
rs72912280	0.83[ASN][1000 genomes]
rs72912286	0.83[ASN][1000 genomes]
rs72914135	0.82[EUR][1000 genomes]
rs72914141	0.83[ASN][1000 genomes]
rs7564429	0.83[ASN][1000 genomes]
rs7577872	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9808245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190211800-190215200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:190212000-190215200	Weak transcription	Adipose Nuclei	Adipose
3	chr2:190212000-190215200	Weak transcription	Fetal Stomach	stomach
4	chr2:190212000-190215200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:190212200-190215200	Weak transcription	Ovary	ovary
6	chr2:190212800-190215200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:190212800-190215200	Weak transcription	Fetal Lung	lung
8	chr2:190212800-190215200	Weak transcription	HUVEC	blood vessel
9	chr2:190213000-190215200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:190213000-190215200	Weak transcription	HSMM	muscle
11	chr2:190213000-190215200	Weak transcription	Osteobl	bone
12	chr2:190213600-190215200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:190213600-190215600	Weak transcription	HSMMtube	muscle
14	chr2:190214600-190216000	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:190214600-190216200	Enhancers	NHDF-Ad	bronchial
16	chr2:190214600-190216400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:190214800-190216400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:190215000-190216000	Enhancers	NH-A	brain
19	chr2:190215000-190216200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:190215000-190216200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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