Variant report

Variant	rs9293277
Chromosome Location	chr5:80922610-80922611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10036942	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10050981	1.00[ASN][1000 genomes]
rs10053226	0.81[EUR][1000 genomes]
rs10054360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056236	1.00[ASW][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10057707	1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10059425	0.90[EUR][1000 genomes]
rs10060208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060828	0.89[ASN][1000 genomes]
rs10062494	0.90[EUR][1000 genomes]
rs10064862	1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10064938	0.90[EUR][1000 genomes]
rs10066110	1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10069094	0.95[YRI][hapmap];0.97[AFR][1000 genomes]
rs10074416	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10074423	0.81[EUR][1000 genomes]
rs10078696	1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs10473849	0.89[ASN][1000 genomes]
rs10473850	0.90[EUR][1000 genomes]
rs10474032	1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10474033	1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10474035	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10514221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942268	1.00[ASW][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10942277	0.90[EUR][1000 genomes]
rs10942278	0.85[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs10942279	0.85[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs12515751	0.90[YRI][hapmap]
rs13354281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357855	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13359852	0.81[EUR][1000 genomes]
rs13360410	0.90[EUR][1000 genomes]
rs13360536	0.85[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs13362287	0.85[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs1373965	0.90[EUR][1000 genomes]
rs16876417	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs16898989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899116	0.88[TSI][hapmap]
rs28465130	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28546170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28825230	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4529168	0.86[YRI][hapmap]
rs55792529	0.90[EUR][1000 genomes]
rs56414093	0.89[ASN][1000 genomes]
rs57587453	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57681369	0.89[ASN][1000 genomes]
rs58050716	0.90[EUR][1000 genomes]
rs58238009	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58652756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59261412	0.82[AFR][1000 genomes]
rs61561045	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6452417	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6452422	0.90[EUR][1000 genomes]
rs6859225	0.85[YRI][hapmap]
rs6869839	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872195	0.90[EUR][1000 genomes]
rs6872668	0.89[ASN][1000 genomes]
rs6882480	0.88[TSI][hapmap]
rs6884379	1.00[ASN][1000 genomes]
rs6887061	1.00[CEU][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6887447	0.90[EUR][1000 genomes]
rs6888401	1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6893886	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6896772	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6897373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898968	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133677	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133692	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73135608	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135614	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73135635	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73135661	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs73137634	0.81[EUR][1000 genomes]
rs73137639	0.81[EUR][1000 genomes]
rs73766239	0.89[ASN][1000 genomes]
rs7707946	0.90[EUR][1000 genomes]
rs7710001	1.00[TSI][hapmap]
rs7717767	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7721321	0.95[YRI][hapmap]
rs7729317	0.81[EUR][1000 genomes]
rs7736720	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9641	0.89[ASN][1000 genomes]
rs9986216	1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525437	chr5:80876359-80964452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv462222	chr5:80900719-80964452	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv598752	chr5:80900719-80964452	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80893400-80926000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:80905200-80926000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:80906000-80927000	Weak transcription	Gastric	stomach
4	chr5:80906000-80929400	Weak transcription	Fetal Brain Female	brain
5	chr5:80906000-80935000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:80906000-80946600	Weak transcription	Brain Anterior Caudate	brain
7	chr5:80906000-80947000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:80906200-80923600	Weak transcription	Ovary	ovary
9	chr5:80906200-80925000	Weak transcription	Pancreas	Pancrea
10	chr5:80906200-80926600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:80906200-80927000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:80906200-80927200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:80906200-80927600	Weak transcription	Lung	lung
14	chr5:80906200-80930600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:80906200-80933000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:80906200-80938800	Weak transcription	Left Ventricle	heart
17	chr5:80906200-80942400	Weak transcription	Esophagus	oesophagus
18	chr5:80906200-80947800	Weak transcription	Brain Germinal Matrix	brain
19	chr5:80906400-80926000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:80906600-80936200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:80909600-80926600	Weak transcription	Primary T cells from cord blood	blood
22	chr5:80909600-80933200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:80910000-80930600	Weak transcription	Adipose Nuclei	Adipose
24	chr5:80910400-80953000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr5:80910800-80924800	Weak transcription	Thymus	Thymus
26	chr5:80910800-80949200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr5:80911400-80925400	Weak transcription	Fetal Kidney	kidney
28	chr5:80918200-80934800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr5:80918400-80923800	Weak transcription	Primary B cells from cord blood	blood
30	chr5:80918400-80938800	Weak transcription	Fetal Stomach	stomach
31	chr5:80918400-80939800	Weak transcription	Fetal Lung	lung
32	chr5:80918600-80926000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:80918800-80935200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:80919600-80923600	Strong transcription	Fetal Thymus	thymus
35	chr5:80920600-80946800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr5:80921000-80925800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:80921200-80927000	Weak transcription	Small Intestine	intestine
38	chr5:80921200-80983000	Weak transcription	Aorta	Aorta
39	chr5:80921400-80923200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:80921400-80923200	Enhancers	NHDF-Ad	bronchial
41	chr5:80921400-80923600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:80921600-80923200	Enhancers	HSMM	muscle
43	chr5:80921600-80923400	Enhancers	HUVEC	blood vessel
44	chr5:80921600-80923400	Enhancers	NHLF	lung
45	chr5:80921600-80923800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:80921800-80923400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr5:80922000-80923200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:80922000-80923200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:80922200-80922800	Enhancers	NHEK	skin
50	chr5:80922200-80923000	Enhancers	Fetal Intestine Large	intestine

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