Variant report

Variant	rs56014814
Chromosome Location	chr4:121595713-121595714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12507239	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55925426	1.00[EUR][1000 genomes]
rs56029376	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56349949	1.00[EUR][1000 genomes]
rs58568085	0.90[EUR][1000 genomes]
rs60100184	1.00[EUR][1000 genomes]
rs60414940	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60660972	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911539	1.00[EUR][1000 genomes]
rs72913588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913597	1.00[EUR][1000 genomes]
rs72915508	1.00[EUR][1000 genomes]
rs72919561	1.00[EUR][1000 genomes]
rs72919574	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919576	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919578	1.00[EUR][1000 genomes]
rs73845419	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73845420	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73845428	0.91[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	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1004485	chr4:121542992-121716769	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121591200-121620600	Weak transcription	Left Ventricle	heart
2	chr4:121594000-121596200	Weak transcription	Brain Substantia Nigra	brain
3	chr4:121594200-121595800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr4:121594200-121595800	ZNF genes & repeats	Lung	lung
5	chr4:121594400-121595800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:121594400-121595800	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr4:121595000-121596000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:121595200-121596000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr4:121595400-121595800	ZNF genes & repeats	Fetal Intestine Large	intestine
10	chr4:121595400-121598200	Weak transcription	Fetal Lung	lung
11	chr4:121595400-121602600	Weak transcription	Ovary	ovary

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

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