Variant report

Variant	rs12499151
Chromosome Location	chr4:120928173-120928174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11098555	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11936056	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17008457	0.92[EUR][1000 genomes]
rs17008785	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28674650	0.83[EUR][1000 genomes]
rs56209126	0.89[EUR][1000 genomes]
rs62321777	0.94[EUR][1000 genomes]
rs62321778	0.92[EUR][1000 genomes]
rs62321782	0.92[EUR][1000 genomes]
rs62321788	0.94[EUR][1000 genomes]
rs62321789	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833747	0.94[EUR][1000 genomes]
rs6842380	0.92[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	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv879850	chr4:120898509-120969089	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120919200-120931000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:120926600-120928600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:120926800-120929000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:120927200-120929000	Enhancers	Rectal Smooth Muscle	rectum
5	chr4:120927800-120929400	Enhancers	Osteobl	bone
6	chr4:120928000-120928800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:120928000-120929000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:120928000-120929000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:120928000-120929000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:120928000-120929000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:120928000-120929400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:120928000-120929400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:120928000-120930000	Enhancers	Fetal Muscle Leg	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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