Variant report

Variant	rs17141250
Chromosome Location	chr6:5766211-5766212
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5765933..5768919-chr6:5770030..5772531,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11969052	1.00[CEU][hapmap]
rs12524563	0.86[EUR][1000 genomes]
rs12528454	1.00[CEU][hapmap];0.94[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs17141268	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17141271	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17141289	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17145862	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2093427	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2326674	1.00[CEU][hapmap]
rs4291133	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4959356	0.82[EUR][1000 genomes]
rs57418738	0.82[EUR][1000 genomes]
rs59058623	0.86[EUR][1000 genomes]
rs61187836	0.82[EUR][1000 genomes]
rs6910357	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6914171	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6941313	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73720206	0.82[EUR][1000 genomes]
rs9504502	1.00[CEU][hapmap]
rs9504506	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[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	nsv969347	chr6:5757580-5774327	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17141250	APBB2	trans	lymphoblastoid	seeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5753000-5786000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:5754600-5771400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:5754800-5767200	Weak transcription	Fetal Intestine Small	intestine
4	chr6:5754800-5771000	Weak transcription	Pancreas	Pancrea
5	chr6:5755000-5775600	Weak transcription	Thymus	Thymus
6	chr6:5756400-5771200	Weak transcription	Primary T cells from cord blood	blood
7	chr6:5760000-5766600	Enhancers	Fetal Muscle Leg	muscle
8	chr6:5760400-5771400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr6:5764600-5774200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:5764800-5771600	Weak transcription	Ovary	ovary
11	chr6:5764800-5776000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:5765000-5776600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:5765200-5766400	Enhancers	Brain Anterior Caudate	brain
14	chr6:5765200-5767000	Enhancers	Fetal Heart	heart
15	chr6:5765200-5777000	Weak transcription	NHLF	lung
16	chr6:5765200-5778800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:5765400-5766600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr6:5765400-5766600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr6:5765400-5766600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:5765400-5776000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:5765400-5782200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:5765600-5766600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr6:5765600-5766800	Enhancers	Fetal Muscle Trunk	muscle
24	chr6:5765600-5773200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:5765600-5774000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:5765600-5775800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:5765600-5782800	Weak transcription	Gastric	stomach
28	chr6:5765600-5783000	Weak transcription	Esophagus	oesophagus
29	chr6:5765800-5766400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:5765800-5775400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:5766000-5766400	Weak transcription	Fetal Thymus	thymus
32	chr6:5766000-5766600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:5766000-5771000	Weak transcription	Spleen	Spleen
34	chr6:5766000-5771400	Weak transcription	Left Ventricle	heart
35	chr6:5766000-5771600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:5766000-5772000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:5766000-5772800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr6:5766000-5776200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:5766000-5777200	Weak transcription	Lung	lung
40	chr6:5766000-5783400	Weak transcription	Brain Hippocampus Middle	brain
41	chr6:5766000-5783400	Weak transcription	Right Atrium	heart
42	chr6:5766200-5770000	Weak transcription	Right Ventricle	heart
43	chr6:5766200-5772200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:5766200-5772800	Weak transcription	Primary B cells from cord blood	blood

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