Variant report

Variant	rs11993168
Chromosome Location	chr8:19370512-19370513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs28722606	1.00[EUR][1000 genomes]
rs6998991	1.00[EUR][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 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	chr8:19363000-19372600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr8:19363200-19372800	Weak transcription	Spleen	Spleen
5	chr8:19363200-19376600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:19364800-19376400	Weak transcription	Hela-S3	cervix
7	chr8:19365400-19372400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr8:19365800-19372400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:19366600-19370600	Enhancers	Fetal Lung	lung
10	chr8:19366600-19370800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:19366600-19372400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr8:19367000-19385000	Weak transcription	Ovary	ovary
13	chr8:19367200-19370800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:19367400-19370800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:19367600-19370600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:19367800-19370800	Enhancers	Right Atrium	heart
17	chr8:19368400-19370600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:19368400-19371000	Enhancers	Left Ventricle	heart
19	chr8:19368400-19371200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:19368400-19372600	Enhancers	Primary B cells from peripheral blood	blood
21	chr8:19368600-19370800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr8:19368600-19371400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:19368800-19371400	Weak transcription	Thymus	Thymus
24	chr8:19368800-19372400	Enhancers	Primary T cells from cord blood	blood
25	chr8:19368800-19372600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:19368800-19372600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:19368800-19372600	Weak transcription	Placenta	Placenta
28	chr8:19368800-19372800	Weak transcription	Gastric	stomach
29	chr8:19369000-19370600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr8:19369000-19370800	Strong transcription	A549	lung
31	chr8:19369000-19372400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:19369000-19372600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr8:19369000-19372600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr8:19369200-19372400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:19369200-19373800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr8:19369400-19370600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr8:19369400-19370800	Enhancers	Brain Cingulate Gyrus	brain
38	chr8:19369600-19371400	Weak transcription	Fetal Thymus	thymus
39	chr8:19369600-19372400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:19369800-19372600	Enhancers	Primary B cells from cord blood	blood
41	chr8:19369800-19372800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:19370200-19370800	Enhancers	Brain Anterior Caudate	brain
43	chr8:19370200-19372000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr8:19370400-19370600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr8:19370400-19370600	Enhancers	Lung	lung
46	chr8:19370400-19370600	Enhancers	Pancreas	Pancrea
47	chr8:19370400-19370800	Enhancers	Brain Angular Gyrus	brain
48	chr8:19370400-19370800	Enhancers	Brain Hippocampus Middle	brain
49	chr8:19370400-19370800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr8:19370400-19370800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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