Variant report

Variant	rs57756713
Chromosome Location	chr7:150523787-150523788
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12703102	0.85[ASN][1000 genomes]
rs35613114	0.84[ASN][1000 genomes]
rs4725953	0.84[ASN][1000 genomes]
rs59575516	0.85[ASN][1000 genomes]
rs62490442	0.86[ASN][1000 genomes]
rs6946967	0.84[ASN][1000 genomes]
rs6963419	0.84[ASN][1000 genomes]
rs6980179	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57756713	AOC1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150503400-150528000	Weak transcription	Ovary	ovary
2	chr7:150519800-150525200	Enhancers	Fetal Heart	heart
3	chr7:150522000-150523800	Enhancers	Left Ventricle	heart
4	chr7:150522400-150524600	Enhancers	Fetal Intestine Small	intestine
5	chr7:150522400-150542800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:150522600-150524000	Enhancers	Fetal Intestine Large	intestine
7	chr7:150522800-150524000	Flanking Active TSS	Liver	Liver
8	chr7:150522800-150524600	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr7:150523000-150524200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr7:150523200-150523800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:150523200-150523800	Enhancers	Esophagus	oesophagus
12	chr7:150523200-150523800	Enhancers	Stomach Mucosa	stomach
13	chr7:150523400-150523800	Bivalent Enhancer	HepG2	liver
14	chr7:150523400-150524000	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr7:150523400-150524200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr7:150523400-150528000	Weak transcription	Right Atrium	heart
17	chr7:150523600-150523800	Flanking Active TSS	Duodenum Mucosa	Duodenum

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

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