Variant report

Variant	rs3020125
Chromosome Location	chr8:117877717-117877718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117862463..117865203-chr8:117877593..117879103,2	K562	blood:

Variant related genes	Relation type
ENSG00000164754	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10094803	1.00[EUR][1000 genomes]
rs10282816	1.00[EUR][1000 genomes];0.94[ASN][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];0.94[ASN][1000 genomes]
rs12548885	0.93[ASN][1000 genomes]
rs12548895	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1348797	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16888870	0.94[ASN][1000 genomes]
rs16888925	1.00[EUR][1000 genomes]
rs16888945	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16889007	1.00[EUR][1000 genomes]
rs16889037	1.00[EUR][1000 genomes]
rs16889074	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16889209	1.00[EUR][1000 genomes]
rs16889218	1.00[EUR][1000 genomes]
rs16889220	1.00[EUR][1000 genomes]
rs16889226	1.00[EUR][1000 genomes]
rs17435846	1.00[EUR][1000 genomes]
rs17435860	1.00[EUR][1000 genomes]
rs1838839	1.00[EUR][1000 genomes]
rs2241981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2241982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2289937	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs28462971	1.00[EUR][1000 genomes]
rs2921754	0.92[ASN][1000 genomes]
rs2921756	0.97[ASN][1000 genomes]
rs2921757	0.97[ASN][1000 genomes]
rs2921758	0.97[ASN][1000 genomes]
rs2921770	1.00[ASN][1000 genomes]
rs2921771	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921772	1.00[ASN][1000 genomes]
rs2921773	1.00[ASN][1000 genomes]
rs2921774	1.00[ASN][1000 genomes]
rs2921775	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2921776	1.00[ASN][1000 genomes]
rs2921777	1.00[ASN][1000 genomes]
rs2921778	1.00[ASN][1000 genomes]
rs2921779	1.00[ASN][1000 genomes]
rs2921780	1.00[ASN][1000 genomes]
rs2921781	1.00[ASN][1000 genomes]
rs2921782	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921783	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921786	1.00[ASN][1000 genomes]
rs2921787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921789	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2921790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2921791	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3020109	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3020111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020118	1.00[ASN][1000 genomes]
rs3020124	1.00[ASN][1000 genomes]
rs3020126	1.00[ASN][1000 genomes]
rs3020128	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020130	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020131	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3020134	1.00[ASN][1000 genomes]
rs3020135	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3020136	1.00[ASN][1000 genomes]
rs3020138	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020139	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020140	1.00[ASN][1000 genomes]
rs3020142	1.00[ASN][1000 genomes]
rs3020174	0.93[JPT][hapmap]
rs3020181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35189908	0.84[ASN][1000 genomes]
rs55952416	1.00[EUR][1000 genomes]
rs56095633	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57202151	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6469664	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6993568	1.00[EUR][1000 genomes]
rs6996153	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs73308296	0.91[ASN][1000 genomes]
rs7820245	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7831930	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7836088	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3366232	chr8:117875403-117878954	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	1 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	chr8:117856400-117878400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr8:117856400-117879000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr8:117856400-117882000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:117856800-117878800	Strong transcription	Fetal Thymus	thymus
6	chr8:117857000-117879200	Strong transcription	Hela-S3	cervix
7	chr8:117857200-117878000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:117857600-117878400	Strong transcription	Duodenum Mucosa	Duodenum
9	chr8:117858000-117879000	Strong transcription	Primary B cells from peripheral blood	blood
10	chr8:117858200-117878400	Strong transcription	Primary B cells from cord blood	blood
11	chr8:117859600-117883800	Weak transcription	Stomach Mucosa	stomach
12	chr8:117860400-117885800	Weak transcription	Esophagus	oesophagus
13	chr8:117864400-117882400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:117864400-117885800	Weak transcription	Gastric	stomach
15	chr8:117864800-117878400	Weak transcription	Aorta	Aorta
16	chr8:117864800-117884000	Weak transcription	Right Ventricle	heart
17	chr8:117865200-117882400	Weak transcription	Lung	lung
18	chr8:117865200-117885800	Weak transcription	Pancreas	Pancrea
19	chr8:117865600-117881600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:117865600-117885800	Weak transcription	Spleen	Spleen
21	chr8:117866800-117878200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr8:117867000-117885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:117867000-117885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:117868600-117881000	Weak transcription	Fetal Brain Male	brain
25	chr8:117869000-117878200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:117869800-117878800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:117870000-117884400	Weak transcription	Colonic Mucosa	Colon
28	chr8:117870200-117884800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:117871000-117878200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:117872200-117878400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:117872400-117878000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:117872600-117884400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:117872800-117878000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:117873000-117879400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:117873000-117882600	Weak transcription	Fetal Kidney	kidney
36	chr8:117873200-117878200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:117873800-117878600	Weak transcription	Brain Germinal Matrix	brain
38	chr8:117873800-117883000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:117874000-117877800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:117875000-117878200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr8:117875000-117879000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
42	chr8:117875200-117878600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
43	chr8:117875200-117879000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
44	chr8:117875200-117880400	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr8:117875600-117878200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr8:117876000-117877800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:117876000-117878000	Weak transcription	Psoas Muscle	Psoas
48	chr8:117876000-117878000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:117876000-117878200	Weak transcription	Small Intestine	intestine
50	chr8:117876000-117878400	Weak transcription	Ovary	ovary

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