Variant report

Variant	rs11520095
Chromosome Location	chr12:60188184-60188185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11173117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11173150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12146796	1.00[AMR][1000 genomes]
rs12368525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12372155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899132	chr12:60087572-60211476	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv899133	chr12:60135504-60202218	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv899134	chr12:60141518-60263723	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv899135	chr12:60156046-60228610	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv559101	chr12:60164408-60202218	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv559102	chr12:60164408-60221898	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr12:60169400-60189200	Weak transcription	Dnd41	blood
2	chr12:60173400-60189400	Weak transcription	Left Ventricle	heart
3	chr12:60186400-60189400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:60186600-60189400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:60186800-60197600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:60187000-60189400	Weak transcription	Fetal Stomach	stomach
7	chr12:60187200-60189400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:60187200-60189400	Weak transcription	Aorta	Aorta
9	chr12:60187200-60189400	Weak transcription	Esophagus	oesophagus
10	chr12:60187200-60189400	Weak transcription	Pancreas	Pancrea
11	chr12:60187400-60189200	Weak transcription	Adipose Nuclei	Adipose

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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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