Variant report

Variant	rs73276257
Chromosome Location	chr12:44712410-44712411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1098497	1.00[AMR][1000 genomes]
rs1618337	1.00[AMR][1000 genomes]
rs1622682	1.00[AMR][1000 genomes]
rs1643433	1.00[AMR][1000 genomes]
rs1644011	1.00[AMR][1000 genomes]
rs1726887	1.00[AMR][1000 genomes]
rs57957351	1.00[AMR][1000 genomes]
rs58523791	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274196	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274199	1.00[AMR][1000 genomes]
rs73276216	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276236	1.00[AMR][1000 genomes]
rs73276237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276240	1.00[AMR][1000 genomes]
rs73276275	1.00[AMR][1000 genomes]
rs73276299	1.00[AMR][1000 genomes]
rs73276302	1.00[AMR][1000 genomes]
rs73278304	1.00[AMR][1000 genomes]
rs73278305	1.00[AMR][1000 genomes]
rs73278320	1.00[AMR][1000 genomes]
rs73278324	1.00[AMR][1000 genomes]
rs73278334	1.00[AMR][1000 genomes]
rs73278339	1.00[AMR][1000 genomes]
rs73278386	1.00[AMR][1000 genomes]
rs840767	1.00[AMR][1000 genomes]
rs840773	1.00[AMR][1000 genomes]
rs859016	1.00[AMR][1000 genomes]
rs863482	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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv520635	chr12:44707667-44720874	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44712600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:44699000-44713800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:44699000-44736000	Weak transcription	Pancreas	Pancrea
4	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
5	chr12:44709200-44743200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:44711600-44712800	Enhancers	Esophagus	oesophagus
7	chr12:44711800-44712600	Enhancers	HMEC	breast
8	chr12:44711800-44712600	Enhancers	NHEK	skin
9	chr12:44711800-44713000	Strong transcription	Fetal Intestine Small	intestine
10	chr12:44712400-44712800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:44712400-44765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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