Variant report

Variant	rs73413792
Chromosome Location	chr12:122293810-122293811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11043230	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11829393	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310449	1.00[AMR][1000 genomes]
rs12313193	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12316702	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13378033	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73415604	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73415607	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974677	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122278200-122294000	Weak transcription	Spleen	Spleen
2	chr12:122278200-122296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122278400-122295400	Weak transcription	Fetal Intestine Small	intestine
4	chr12:122291200-122295400	Weak transcription	Pancreas	Pancrea
5	chr12:122292000-122296400	Weak transcription	Right Atrium	heart
6	chr12:122292200-122294000	Genic enhancers	Liver	Liver
7	chr12:122292200-122296400	Weak transcription	Colonic Mucosa	Colon
8	chr12:122292600-122296000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:122292600-122296000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr12:122292800-122294400	Weak transcription	HepG2	liver
11	chr12:122292800-122295400	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:122292800-122296400	Weak transcription	Right Ventricle	heart
13	chr12:122292800-122296800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:122293200-122294000	Weak transcription	GM12878-XiMat	blood
15	chr12:122293600-122294000	Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr12:122293800-122294200	Enhancers	Primary B cells from cord blood	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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