Variant report

Variant	rs72680456
Chromosome Location	chr4:121797254-121797255
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17350290	0.82[ASN][1000 genomes]
rs2122512	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2597553	0.87[AFR][1000 genomes]
rs55841702	0.87[EUR][1000 genomes]
rs56311699	0.83[EUR][1000 genomes]
rs6839170	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72678346	0.82[ASN][1000 genomes]
rs72680423	0.82[ASN][1000 genomes]
rs72680460	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72680463	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72680471	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72680473	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7673521	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv4490	chr4:121782939-121801246	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121784200-121798000	Weak transcription	Fetal Intestine Small	intestine
2	chr4:121791400-121803200	Weak transcription	Fetal Stomach	stomach
3	chr4:121792400-121800000	Weak transcription	Aorta	Aorta
4	chr4:121795200-121797400	Enhancers	Fetal Lung	lung
5	chr4:121795800-121797400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:121796000-121797400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:121796000-121797400	Enhancers	Ovary	ovary
8	chr4:121796200-121797400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:121796400-121824400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:121796600-121798000	Weak transcription	Fetal Intestine Large	intestine
11	chr4:121796600-121802000	Weak transcription	NHDF-Ad	bronchial
12	chr4:121796600-121803200	Weak transcription	Pancreas	Pancrea
13	chr4:121796800-121803200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:121796800-121808400	Weak transcription	Left Ventricle	heart
15	chr4:121797000-121798200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:121797000-121798400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:121797000-121823800	Weak transcription	Osteobl	bone
18	chr4:121797200-121797400	Enhancers	Rectal Mucosa Donor 31	rectum

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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