Variant report

Variant	rs10093993
Chromosome Location	chr8:59811454-59811455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10091451	0.83[AMR][1000 genomes]
rs10095333	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10098750	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105665	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10108037	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109566	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10112089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114218	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12115074	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13261666	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13262230	0.81[EUR][1000 genomes]
rs13263261	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13268621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13271523	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1349113	0.81[EUR][1000 genomes]
rs1448541	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562612	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2044643	0.81[EUR][1000 genomes]
rs2326213	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737525	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4738729	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4738730	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4738731	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738733	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738734	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4738735	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55871839	0.93[ASN][1000 genomes]
rs6471757	0.86[AMR][1000 genomes]
rs6651298	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6988143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7000535	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7002967	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7004274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829715	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9298002	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv526468	chr8:59799820-59813809	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59794200-59820000	Weak transcription	Fetal Intestine Large	intestine
2	chr8:59802800-59826600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:59805000-59812200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:59805000-59815200	Weak transcription	Fetal Heart	heart
5	chr8:59805200-59815600	Weak transcription	Fetal Stomach	stomach
6	chr8:59805400-59826800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:59806000-59814000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:59806400-59815400	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:59808600-59815200	Weak transcription	Osteobl	bone
10	chr8:59809000-59826400	Weak transcription	Thymus	Thymus
11	chr8:59809800-59811800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:59810200-59814800	Weak transcription	Brain Germinal Matrix	brain
13	chr8:59810400-59811600	Enhancers	Fetal Brain Female	brain
14	chr8:59810400-59813200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:59810600-59811800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr8:59810600-59812000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:59810600-59812400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:59810600-59812400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:59810800-59811600	Enhancers	Primary B cells from cord blood	blood
20	chr8:59810800-59811600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:59810800-59811800	Enhancers	Primary B cells from peripheral blood	blood
22	chr8:59810800-59811800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr8:59810800-59811800	Strong transcription	Dnd41	blood
24	chr8:59810800-59811800	Enhancers	HUVEC	blood vessel
25	chr8:59811000-59811600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr8:59811000-59811600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:59811000-59811600	Enhancers	Adipose Nuclei	Adipose
28	chr8:59811000-59811600	Enhancers	Brain Angular Gyrus	brain
29	chr8:59811000-59811600	Genic enhancers	Duodenum Mucosa	Duodenum
30	chr8:59811000-59811600	Enhancers	Fetal Lung	lung
31	chr8:59811000-59811800	Enhancers	Primary hematopoietic stem cells	blood
32	chr8:59811000-59811800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:59811000-59811800	Enhancers	NHDF-Ad	bronchial
34	chr8:59811000-59812000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr8:59811000-59812600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr8:59811200-59811600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr8:59811200-59811600	Enhancers	Left Ventricle	heart
38	chr8:59811200-59811800	Enhancers	Stomach Smooth Muscle	stomach
39	chr8:59811400-59811800	Strong transcription	Fetal Thymus	thymus
40	chr8:59811400-59812000	Enhancers	Primary T cells from cord blood	blood
41	chr8:59811400-59812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:59811400-59813400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:59811400-59813800	Weak transcription	Fetal Brain Male	brain
44	chr8:59811400-59851400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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