Variant report

Variant	rs12314722
Chromosome Location	chr12:4328138-4328139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11063017	1.00[EUR][1000 genomes]
rs11063033	1.00[EUR][1000 genomes]
rs11063034	1.00[EUR][1000 genomes]
rs11063065	1.00[EUR][1000 genomes]
rs11063066	1.00[EUR][1000 genomes]
rs11835600	1.00[EUR][1000 genomes]
rs12298350	1.00[EUR][1000 genomes]
rs12298481	1.00[EUR][1000 genomes]
rs12301232	1.00[EUR][1000 genomes]
rs12302183	1.00[EUR][1000 genomes]
rs12306960	1.00[EUR][1000 genomes]
rs12307582	1.00[EUR][1000 genomes]
rs12309433	1.00[EUR][1000 genomes]
rs12310230	1.00[EUR][1000 genomes]
rs12310388	1.00[EUR][1000 genomes]
rs12317148	1.00[EUR][1000 genomes]
rs12317697	1.00[EUR][1000 genomes]
rs12318331	1.00[EUR][1000 genomes]
rs12319140	1.00[EUR][1000 genomes]
rs12423695	1.00[EUR][1000 genomes]
rs2534781	1.00[EUR][1000 genomes]
rs2540121	1.00[EUR][1000 genomes]
rs2540124	1.00[EUR][1000 genomes]
rs2540125	1.00[EUR][1000 genomes]
rs2540126	1.00[EUR][1000 genomes]
rs2540127	1.00[EUR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr12:4326200-4333000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:4326400-4330400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:4326800-4329000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr12:4326800-4329000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:4326800-4329000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:4326800-4329400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:4326800-4331600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:4327000-4332800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:4327400-4332200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:4327600-4332000	Weak transcription	Primary B cells from cord blood	blood

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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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