Variant report

Variant	rs16889074
Chromosome Location	chr8:117881313-117881314
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:117880976-117882371	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117855517..117858008-chr8:117880240..117882467,2	K562	blood:

Variant related genes	Relation type
RAD21	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10094803	1.00[EUR][1000 genomes]
rs10282816	1.00[EUR][1000 genomes]
rs10283144	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10283150	1.00[EUR][1000 genomes]
rs11990712	1.00[EUR][1000 genomes]
rs12543129	1.00[EUR][1000 genomes]
rs12548895	1.00[EUR][1000 genomes]
rs1348797	1.00[EUR][1000 genomes]
rs14795	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16888925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16888945	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16889007	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16889037	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16889209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16889218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16889220	1.00[EUR][1000 genomes]
rs16889226	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17435846	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17435860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1838839	1.00[EUR][1000 genomes]
rs2241981	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2241982	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2289937	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28462971	1.00[EUR][1000 genomes]
rs2921771	1.00[EUR][1000 genomes]
rs2921782	1.00[EUR][1000 genomes]
rs2921783	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2921784	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2921785	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2921787	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2921788	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2921790	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3020111	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3020125	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3020128	1.00[EUR][1000 genomes]
rs3020130	1.00[EUR][1000 genomes]
rs3020131	1.00[EUR][1000 genomes]
rs3020133	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3020135	1.00[EUR][1000 genomes]
rs3020138	1.00[EUR][1000 genomes]
rs3020139	1.00[EUR][1000 genomes]
rs3020181	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs55952416	1.00[EUR][1000 genomes]
rs56095633	1.00[EUR][1000 genomes]
rs57202151	1.00[EUR][1000 genomes]
rs6469664	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6993568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6996153	1.00[GIH][hapmap];0.85[TSI][hapmap]
rs7820245	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824338	0.86[LWK][hapmap];1.00[YRI][hapmap]
rs7831930	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7836088	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117853000-117881400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:117856400-117882000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:117859600-117883800	Weak transcription	Stomach Mucosa	stomach
4	chr8:117860400-117885800	Weak transcription	Esophagus	oesophagus
5	chr8:117864400-117882400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:117864400-117885800	Weak transcription	Gastric	stomach
7	chr8:117864800-117884000	Weak transcription	Right Ventricle	heart
8	chr8:117865200-117882400	Weak transcription	Lung	lung
9	chr8:117865200-117885800	Weak transcription	Pancreas	Pancrea
10	chr8:117865600-117881600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:117865600-117885800	Weak transcription	Spleen	Spleen
12	chr8:117867000-117885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:117867000-117885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:117870000-117884400	Weak transcription	Colonic Mucosa	Colon
15	chr8:117870200-117884800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:117872600-117884400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:117873000-117882600	Weak transcription	Fetal Kidney	kidney
18	chr8:117873800-117883000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:117876000-117881400	Weak transcription	NHLF	lung
20	chr8:117876000-117882400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:117876000-117884600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:117876200-117881400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:117876200-117881400	Weak transcription	Left Ventricle	heart
24	chr8:117876200-117881600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:117876200-117882800	Weak transcription	NH-A	brain
26	chr8:117876200-117883200	Weak transcription	Fetal Intestine Large	intestine
27	chr8:117877200-117884000	Transcr. at gene 5' and 3'	Dnd41	blood
28	chr8:117877400-117881400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:117877400-117885000	Enhancers	Fetal Heart	heart
30	chr8:117877600-117882200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr8:117877800-117881400	Weak transcription	HMEC	breast
32	chr8:117877800-117881400	Weak transcription	NHEK	skin
33	chr8:117877800-117884400	Weak transcription	Fetal Intestine Small	intestine
34	chr8:117877800-117884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:117878200-117881400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:117878200-117881600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:117878200-117882200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr8:117878200-117884400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:117878400-117881400	Weak transcription	K562	blood
40	chr8:117878400-117881600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:117878400-117882200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:117878400-117882400	Weak transcription	Placenta	Placenta
43	chr8:117878400-117882800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr8:117878400-117884200	Weak transcription	Fetal Stomach	stomach
45	chr8:117878400-117884600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr8:117878400-117884800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:117878600-117881400	Enhancers	Primary T cells from cord blood	blood
48	chr8:117878600-117881600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:117878600-117881600	Weak transcription	Ovary	ovary
50	chr8:117878600-117882600	Weak transcription	Fetal Lung	lung

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