Variant report

Variant	rs62184653
Chromosome Location	chr2:190277595-190277596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189979724..189980417-chr2:190276740..190277610,3	MCF-7	breast:
2	chr2:190007607..190008525-chr2:190276403..190277763,5	MCF-7	breast:
3	chr2:190007614..190008526-chr2:190276902..190277807,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10497701	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10497702	0.94[ASN][1000 genomes]
rs11681937	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11684417	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11686908	0.92[ASN][1000 genomes]
rs11688806	0.94[ASN][1000 genomes]
rs13389708	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1371470	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1402369	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17198829	0.81[EUR][1000 genomes]
rs17198857	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17198892	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17271008	0.81[EUR][1000 genomes]
rs17271015	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17271036	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17271043	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17271057	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17271071	0.90[ASN][1000 genomes]
rs2289225	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2304701	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55822942	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56252219	0.81[EUR][1000 genomes]
rs58584769	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58926658	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61410845	0.92[ASN][1000 genomes]
rs61528955	0.81[EUR][1000 genomes]
rs62182060	0.81[EUR][1000 genomes]
rs62182061	0.81[EUR][1000 genomes]
rs62182066	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62182070	0.92[ASN][1000 genomes]
rs62183846	0.81[EUR][1000 genomes]
rs62183847	0.81[EUR][1000 genomes]
rs62183848	0.81[EUR][1000 genomes]
rs62184647	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62184648	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62184649	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62184652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62187072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62187074	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62187075	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62187077	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62187078	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62187082	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62187106	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6721290	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6747132	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72912280	0.81[EUR][1000 genomes]
rs72912286	0.81[EUR][1000 genomes]
rs72914141	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72914144	0.87[AFR][1000 genomes]
rs72914175	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7423067	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7564429	0.81[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	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	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv584062	chr2:190272195-190376493	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr2:190273000-190277600	Enhancers	NH-A	brain
2	chr2:190273000-190277800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:190273000-190286200	Weak transcription	Aorta	Aorta
4	chr2:190273200-190277600	Enhancers	NHDF-Ad	bronchial
5	chr2:190273200-190277800	Enhancers	Colon Smooth Muscle	Colon
6	chr2:190273200-190278400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:190273400-190277800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:190274200-190277600	Weak transcription	Fetal Stomach	stomach
9	chr2:190275400-190278200	Enhancers	NHLF	lung
10	chr2:190275800-190277800	Enhancers	Rectal Smooth Muscle	rectum
11	chr2:190276000-190277600	Enhancers	A549	lung
12	chr2:190276000-190277800	Enhancers	Fetal Lung	lung
13	chr2:190276000-190277800	Enhancers	Osteobl	bone
14	chr2:190276400-190277600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr2:190276800-190277600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:190277000-190278200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:190277200-190277600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:190277200-190277600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr2:190277200-190277800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:190277400-190278000	Enhancers	HSMM	muscle

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