Variant report

Variant	rs73119632
Chromosome Location	chr12:60320979-60320980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs7304588	0.82[EUR][1000 genomes]
rs73115342	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73117584	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73117600	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73119612	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73119615	1.00[AMR][1000 genomes];1.00[EUR][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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2751107	chr12:60252000-60353533	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv826393	chr12:60293625-60359283	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60319400-60322000	Enhancers	Hela-S3	cervix
2	chr12:60320200-60321000	Enhancers	NHDF-Ad	bronchial
3	chr12:60320400-60321200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:60320400-60321600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:60320400-60323600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:60320400-60323600	Enhancers	HMEC	breast
7	chr12:60320400-60323600	Enhancers	NHEK	skin
8	chr12:60320600-60321200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:60320800-60321200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:60320800-60322200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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