Variant report

Variant	rs56296871
Chromosome Location	chr12:47806824-47806825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:47806611-47808201	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47803497..47805265-chr12:47806055..47808260,2	MCF-7	breast:
2	chr12:47803402..47807961-chr12:47809484..47814843,5	K562	blood:

Variant related genes	Relation type
ENSG00000257906	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1008150	0.90[EUR][1000 genomes]
rs10492010	1.00[AFR][1000 genomes]
rs11183926	1.00[AFR][1000 genomes]
rs11183937	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11183938	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11183939	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11183943	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12227067	1.00[AFR][1000 genomes]
rs12228708	1.00[AFR][1000 genomes]
rs1881744	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1881745	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1919722	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55647411	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56152134	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7132005	0.88[EUR][1000 genomes]
rs7133014	0.88[EUR][1000 genomes]
rs7298217	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7306873	0.88[EUR][1000 genomes]
rs7309557	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73103608	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73103610	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73105352	0.86[AFR][1000 genomes]
rs7313977	0.83[EUR][1000 genomes]
rs7955175	0.87[AMR][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	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47800000-47808800	Enhancers	Fetal Brain Male	brain
2	chr12:47800600-47807400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:47800800-47807600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:47801000-47808000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr12:47801200-47808600	Enhancers	Colon Smooth Muscle	Colon
6	chr12:47801400-47807000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr12:47801400-47807800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr12:47802200-47809000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:47802200-47820000	Weak transcription	Aorta	Aorta
10	chr12:47802600-47808000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:47802600-47808000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:47803200-47807600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:47803400-47807000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:47803600-47808200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:47804600-47808400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:47804600-47808600	Enhancers	Rectal Smooth Muscle	rectum
17	chr12:47805000-47808600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:47805000-47808600	Enhancers	Primary T cells from cord blood	blood
19	chr12:47805200-47808800	Weak transcription	Brain Anterior Caudate	brain
20	chr12:47805400-47807200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:47805400-47808600	Enhancers	Fetal Intestine Small	intestine
22	chr12:47805600-47807600	Weak transcription	Fetal Brain Female	brain
23	chr12:47806200-47808600	Enhancers	Fetal Intestine Large	intestine
24	chr12:47806200-47809200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:47806600-47808000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:47806600-47809200	Weak transcription	A549	lung
27	chr12:47806800-47807000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr12:47806800-47807000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:47806800-47807800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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