Variant report

Variant	rs10785588
Chromosome Location	chr12:46103606-46103607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46103374..46105811-chr12:46121014..46123339,2	K562	blood:
2	chr12:46102452..46106078-chr12:46112003..46116824,4	K562	blood:

Variant related genes	Relation type
ENSG00000273015	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1055507	0.84[EUR][1000 genomes]
rs1055508	0.84[EUR][1000 genomes]
rs10785587	0.81[EUR][1000 genomes]
rs10880838	0.81[EUR][1000 genomes]
rs10880839	0.80[EUR][1000 genomes]
rs10880840	0.81[EUR][1000 genomes]
rs10880842	0.82[EUR][1000 genomes]
rs10880843	0.82[EUR][1000 genomes]
rs10880845	0.82[EUR][1000 genomes]
rs1117844	0.81[EUR][1000 genomes]
rs1117845	0.81[EUR][1000 genomes]
rs1117846	0.81[EUR][1000 genomes]
rs1117847	0.81[EUR][1000 genomes]
rs11183169	0.82[EUR][1000 genomes]
rs11183172	0.82[EUR][1000 genomes]
rs11183174	0.82[EUR][1000 genomes]
rs1133879	0.84[EUR][1000 genomes]
rs12228699	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12582560	0.82[EUR][1000 genomes]
rs12821899	0.81[EUR][1000 genomes]
rs12826362	0.81[EUR][1000 genomes]
rs1558981	0.81[EUR][1000 genomes]
rs1558985	0.81[EUR][1000 genomes]
rs1989534	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2111964	0.82[EUR][1000 genomes]
rs2111965	0.81[EUR][1000 genomes]
rs2111966	0.81[EUR][1000 genomes]
rs2193753	0.81[EUR][1000 genomes]
rs2193754	0.80[EUR][1000 genomes]
rs2193755	0.81[EUR][1000 genomes]
rs2216473	0.82[EUR][1000 genomes]
rs3948580	0.81[EUR][1000 genomes]
rs4768656	0.82[EUR][1000 genomes]
rs6582568	0.81[EUR][1000 genomes]
rs6582569	0.81[EUR][1000 genomes]
rs7136397	0.81[EUR][1000 genomes]
rs726603	0.81[EUR][1000 genomes]
rs7301998	0.81[EUR][1000 genomes]
rs7303324	0.80[EUR][1000 genomes]
rs7305450	0.81[EUR][1000 genomes]
rs7314841	0.82[EUR][1000 genomes]
rs7968737	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9668562	0.82[EUR][1000 genomes]
rs9669428	0.82[EUR][1000 genomes]
rs9669574	0.82[EUR][1000 genomes]
rs975502	0.81[EUR][1000 genomes]
rs975503	0.81[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	nsv899052	chr12:46068394-46175469	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
2	nsv899053	chr12:46100053-46141372	Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
3	esv3400311	chr12:46103187-46103616	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46095800-46106800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:46097200-46114600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:46097800-46118800	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:46098200-46106000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:46099600-46105600	Weak transcription	Left Ventricle	heart
6	chr12:46099600-46113000	Weak transcription	Psoas Muscle	Psoas
7	chr12:46099600-46115600	Weak transcription	Ovary	ovary
8	chr12:46100600-46104000	Enhancers	Liver	Liver
9	chr12:46100600-46118800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:46101000-46112400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:46101200-46108400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:46101400-46115600	Weak transcription	Brain Substantia Nigra	brain
13	chr12:46102400-46106600	Weak transcription	HSMM	muscle
14	chr12:46102600-46106800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:46103000-46104600	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:46103400-46106800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:46103400-46115200	Weak transcription	Small Intestine	intestine

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