Variant report

Variant	rs7956685
Chromosome Location	chr12:121095079-121095080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11065211	0.89[EUR][1000 genomes]
rs11065212	0.89[EUR][1000 genomes]
rs11065230	0.89[EUR][1000 genomes]
rs11829037	0.89[EUR][1000 genomes]
rs12296423	0.89[EUR][1000 genomes]
rs3830155	0.89[EUR][1000 genomes]
rs4559761	0.89[EUR][1000 genomes]
rs55644516	1.00[EUR][1000 genomes]
rs59358833	0.89[EUR][1000 genomes]
rs59904018	1.00[EUR][1000 genomes]
rs61229807	0.89[EUR][1000 genomes]
rs6490302	0.89[EUR][1000 genomes]
rs7135915	0.89[EUR][1000 genomes]
rs7303170	0.89[EUR][1000 genomes]
rs73409923	0.89[EUR][1000 genomes]
rs7958698	0.89[EUR][1000 genomes]
rs7973907	0.89[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121087600-121096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:121089800-121095400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:121090000-121097000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:121090000-121106000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:121091000-121104400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:121091000-121107000	Weak transcription	Brain Anterior Caudate	brain
7	chr12:121091200-121106600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:121091200-121106800	Weak transcription	Brain Germinal Matrix	brain
9	chr12:121092000-121098000	Weak transcription	Brain Angular Gyrus	brain
10	chr12:121092200-121096600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:121092400-121096200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:121093000-121096600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:121093000-121096600	Weak transcription	Left Ventricle	heart
14	chr12:121093000-121096600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr12:121093000-121107200	Weak transcription	Right Atrium	heart
16	chr12:121093200-121107000	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:121093200-121107200	Weak transcription	Fetal Lung	lung
18	chr12:121093600-121096400	Weak transcription	Right Ventricle	heart
19	chr12:121094200-121096400	Weak transcription	Spleen	Spleen

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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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