Variant report

Variant	rs56236112
Chromosome Location	chr12:39539971-39539972
allele	C/T
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:9)

rs_ID	r²[population]
rs11170818	0.85[ASN][1000 genomes]
rs11170975	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12227706	0.82[ASN][1000 genomes]
rs12817660	0.82[ASN][1000 genomes]
rs1449844	0.82[ASN][1000 genomes]
rs1463209	0.82[ASN][1000 genomes]
rs4500524	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61939206	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959675	0.82[ASN][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	nsv832374	chr12:39468434-39630369	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv899010	chr12:39512724-39594506	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv899011	chr12:39517706-39594506	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv899012	chr12:39531466-39594506	Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39538800-39540000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr12:39539400-39540000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
3	chr12:39539800-39540000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:39539800-39540000	Enhancers	Brain Cingulate Gyrus	brain
5	chr12:39539800-39540000	Bivalent Enhancer	Colon Smooth Muscle	Colon
6	chr12:39539800-39540000	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr12:39539800-39540000	Enhancers	Rectal Smooth Muscle	rectum
8	chr12:39539800-39540000	Enhancers	A549	lung

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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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