Variant report

Variant	rs4922050
Chromosome Location	chr8:19367749-19367750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10105464	0.91[EUR][1000 genomes]
rs10107533	0.90[ASN][1000 genomes]
rs1014481	0.90[ASN][1000 genomes]
rs1014482	0.90[ASN][1000 genomes]
rs10503650	0.82[ASN][1000 genomes]
rs11777593	0.85[EUR][1000 genomes]
rs11778525	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11780905	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11781106	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782907	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11782972	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11784776	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787032	0.85[EUR][1000 genomes]
rs11994059	1.00[ASN][1000 genomes]
rs11994933	1.00[ASN][1000 genomes]
rs17128602	0.82[ASN][1000 genomes]
rs17128626	0.90[ASN][1000 genomes]
rs17408078	0.90[ASN][1000 genomes]
rs17408321	0.90[ASN][1000 genomes]
rs17479581	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17479749	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480050	0.90[ASN][1000 genomes]
rs4436140	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4554481	0.92[EUR][1000 genomes]
rs4921650	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs4921656	0.94[CEU][hapmap];0.97[EUR][1000 genomes]
rs4921659	0.82[ASN][1000 genomes]
rs4922040	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4922042	1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4922054	0.90[ASN][1000 genomes]
rs4922057	0.90[ASN][1000 genomes]
rs4922060	0.82[ASN][1000 genomes]
rs55637382	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55647560	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55696969	0.82[ASN][1000 genomes]
rs55851368	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55856414	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55889457	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55915417	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56155045	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56163568	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57321774	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983175	1.00[CHB][hapmap]
rs6998060	1.00[CHB][hapmap]
rs7002047	1.00[CHB][hapmap]
rs7005625	0.90[ASN][1000 genomes]
rs73212558	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73212568	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73212569	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73212582	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73212587	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73212588	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73212595	0.82[ASN][1000 genomes]
rs73212598	0.82[ASN][1000 genomes]
rs73212600	0.82[ASN][1000 genomes]
rs73212602	0.82[ASN][1000 genomes]
rs73214608	0.90[ASN][1000 genomes]
rs73214610	0.90[ASN][1000 genomes]
rs7818871	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv890623	chr8:19307051-19383697	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv610753	chr8:19364883-19439977	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19338800-19370600	Weak transcription	Esophagus	oesophagus
2	chr8:19348000-19376600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:19351200-19369000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr8:19354400-19367800	Weak transcription	Brain Substantia Nigra	brain
5	chr8:19356000-19368400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:19356400-19368600	Weak transcription	Thymus	Thymus
7	chr8:19359800-19367800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:19362800-19368400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr8:19363000-19369600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:19363000-19372600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr8:19363200-19367800	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:19363200-19368200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:19363200-19372800	Weak transcription	Spleen	Spleen
14	chr8:19363200-19376600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:19363400-19368400	Enhancers	Primary T cells from cord blood	blood
16	chr8:19363400-19368400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr8:19363400-19368400	Weak transcription	Gastric	stomach
18	chr8:19363400-19368400	Weak transcription	Pancreas	Pancrea
19	chr8:19363800-19368400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr8:19364200-19368400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr8:19364200-19368600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:19364400-19368000	Weak transcription	Adipose Nuclei	Adipose
23	chr8:19364600-19367800	Weak transcription	Right Ventricle	heart
24	chr8:19364600-19368000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr8:19364600-19368400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:19364600-19368400	Weak transcription	Left Ventricle	heart
27	chr8:19364800-19376400	Weak transcription	Hela-S3	cervix
28	chr8:19365000-19368600	Weak transcription	Primary B cells from cord blood	blood
29	chr8:19365400-19367800	Weak transcription	Right Atrium	heart
30	chr8:19365400-19372400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr8:19365600-19368400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:19365600-19368400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:19365800-19372400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:19366000-19368400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:19366400-19368600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr8:19366600-19370600	Enhancers	Fetal Lung	lung
37	chr8:19366600-19370800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr8:19366600-19372400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr8:19367000-19367800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:19367000-19385000	Weak transcription	Ovary	ovary
41	chr8:19367200-19368600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:19367200-19370800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:19367400-19369200	Enhancers	Primary hematopoietic stem cells	blood
44	chr8:19367400-19370800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:19367600-19367800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr8:19367600-19367800	Enhancers	Placenta	Placenta
47	chr8:19367600-19368200	Weak transcription	Fetal Thymus	thymus
48	chr8:19367600-19368400	Strong transcription	A549	lung
49	chr8:19367600-19368800	Enhancers	Brain Anterior Caudate	brain
50	chr8:19367600-19369000	Enhancers	Brain Angular Gyrus	brain

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