Variant report

Variant	rs12308904
Chromosome Location	chr12:42677092-42677093
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11181342	0.88[AFR][1000 genomes]
rs11181372	1.00[AFR][1000 genomes]
rs11181374	1.00[AFR][1000 genomes]
rs11181376	1.00[AFR][1000 genomes]
rs11181377	1.00[AFR][1000 genomes]
rs11181392	1.00[AFR][1000 genomes]
rs11181394	1.00[AFR][1000 genomes]
rs12297162	1.00[AFR][1000 genomes]
rs12297435	0.82[AFR][1000 genomes]
rs12299193	1.00[AFR][1000 genomes]
rs12300368	0.94[AFR][1000 genomes]
rs12300611	1.00[AFR][1000 genomes]
rs12300698	1.00[AFR][1000 genomes]
rs12301505	1.00[AFR][1000 genomes]
rs12305400	1.00[AFR][1000 genomes]
rs12307866	1.00[AFR][1000 genomes]
rs12308598	1.00[AFR][1000 genomes]
rs12309515	1.00[AFR][1000 genomes]
rs12312690	1.00[AFR][1000 genomes]
rs12313448	1.00[AFR][1000 genomes]
rs12313668	0.88[AFR][1000 genomes]
rs12314028	1.00[AFR][1000 genomes]
rs12319084	1.00[AFR][1000 genomes]
rs12321515	1.00[AFR][1000 genomes]
rs12322392	1.00[AFR][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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42674600-42678000	Enhancers	Fetal Intestine Small	intestine
2	chr12:42675200-42678000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr12:42676200-42677200	Enhancers	Ovary	ovary
4	chr12:42676400-42677600	Weak transcription	GM12878-XiMat	blood
5	chr12:42676600-42678400	Enhancers	Fetal Intestine Large	intestine
6	chr12:42677000-42678600	Enhancers	Primary monocytes fromperipheralblood	blood

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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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