Variant report

Variant	rs12301753
Chromosome Location	chr12:9945014-9945015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9899277..9916007-chr12:9939474..9959569,108	K562	blood:
2	chr12:9855011..9857485-chr12:9943793..9945990,2	K562	blood:
3	chr12:9935876..9938398-chr12:9943768..9945628,3	K562	blood:
4	chr12:9916372..9918378-chr12:9944960..9947867,2	K562	blood:
5	chr12:9936898..9938906-chr12:9943638..9945628,2	K562	blood:
6	chr12:9939384..9941433-chr12:9943747..9946040,4	K562	blood:
7	chr12:9901100..9927208-chr12:9932356..9954328,123	K562	blood:

Variant related genes	Relation type
ENSG00000256582	Chromatin interaction
ENSG00000110848	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10772147	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11053116	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2110448	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4763931	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4763932	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4763935	0.92[EUR][1000 genomes]
rs6488204	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7966635	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7975116	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3377937	chr12:9938734-9962518	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9928400-9945400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:9930000-9945400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:9930200-9945800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:9939000-9945200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:9940600-9945400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:9940800-9945200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:9941000-9946200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:9941000-9950200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:9941200-9945200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:9943600-9945200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:9944000-9945200	Weak transcription	Primary B cells from cord blood	blood
12	chr12:9944200-9945200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:9944600-9945400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:9944600-9947800	Enhancers	Hela-S3	cervix
15	chr12:9945000-9945200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:9945000-9945400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:9945000-9945400	Enhancers	NH-A	brain
18	chr12:9945000-9946200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:9945000-9946400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:9945000-9948000	Enhancers	HUVEC	blood vessel

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