Variant report

Variant	rs296735
Chromosome Location	chr12:50327990-50327991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11169272	1.00[AMR][1000 genomes]
rs11169273	1.00[AMR][1000 genomes]
rs11169279	1.00[AMR][1000 genomes]
rs11169280	1.00[AMR][1000 genomes]
rs12299109	1.00[AMR][1000 genomes]
rs12305438	1.00[AMR][1000 genomes]
rs12309501	1.00[AMR][1000 genomes]
rs296738	1.00[AMR][1000 genomes]
rs296753	1.00[AMR][1000 genomes]
rs372753	1.00[AMR][1000 genomes]
rs57143574	1.00[AMR][1000 genomes]
rs672697	1.00[AMR][1000 genomes]
rs74090092	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv899072	chr12:50326176-50379667	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50316600-50333200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:50321600-50328800	Enhancers	Hela-S3	cervix
3	chr12:50323400-50338800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:50323800-50328400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:50324000-50331400	Weak transcription	Esophagus	oesophagus
6	chr12:50325200-50328800	Weak transcription	HSMM	muscle
7	chr12:50325600-50330400	Weak transcription	NHEK	skin
8	chr12:50325600-50330800	Weak transcription	HMEC	breast
9	chr12:50325800-50330200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:50326600-50330800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:50326800-50330800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:50326800-50331800	Weak transcription	Right Atrium	heart
13	chr12:50327200-50338600	Weak transcription	Fetal Thymus	thymus
14	chr12:50327400-50328200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:50327600-50328600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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