Variant report

Variant	rs59597892
Chromosome Location	chr12:50010246-50010247
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11831877	0.94[AFR][1000 genomes]
rs11832727	1.00[AFR][1000 genomes]
rs11837399	1.00[AFR][1000 genomes]
rs11837408	1.00[AFR][1000 genomes]
rs11837637	0.97[AFR][1000 genomes]
rs3861577	0.81[AFR][1000 genomes]
rs57489906	0.81[AFR][1000 genomes]
rs58072420	0.94[AFR][1000 genomes]
rs59576871	0.91[AFR][1000 genomes]
rs59957222	0.86[AFR][1000 genomes]
rs60117004	0.94[AFR][1000 genomes]
rs7131756	0.94[AFR][1000 genomes]
rs7134329	1.00[AFR][1000 genomes]
rs7307183	1.00[AFR][1000 genomes]
rs7310069	0.81[AFR][1000 genomes]
rs7312037	0.94[AFR][1000 genomes]
rs7313183	0.94[AFR][1000 genomes]
rs7313590	0.94[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	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
4	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49982600-50015400	Weak transcription	Pancreas	Pancrea
2	chr12:50003800-50012600	Weak transcription	Adipose Nuclei	Adipose
3	chr12:50003800-50015400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:50006400-50010600	Weak transcription	Liver	Liver
5	chr12:50010000-50010600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:50010200-50010400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:50010200-50010600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:50010200-50010600	Enhancers	HepG2	liver
9	chr12:50010200-50010800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:50010200-50012800	Weak transcription	Placenta	Placenta

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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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