Variant report

Variant	rs3020130
Chromosome Location	chr8:117882399-117882400
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117882042..117883991-chr8:117888629..117890364,2	K562	blood:
2	chr8:117855517..117858008-chr8:117880240..117882467,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10094803	1.00[EUR][1000 genomes]
rs10282816	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10283144	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	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1348797	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14795	0.87[AFR][1000 genomes];0.82[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[EUR][1000 genomes]
rs16889007	1.00[EUR][1000 genomes]
rs16889037	1.00[EUR][1000 genomes]
rs16889074	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[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2241982	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2289937	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[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	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921783	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921784	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921785	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921786	1.00[ASN][1000 genomes]
rs2921787	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921788	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921789	0.97[ASN][1000 genomes]
rs2921790	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2921791	0.97[ASN][1000 genomes]
rs3020109	0.94[ASN][1000 genomes]
rs3020111	0.92[AFR][1000 genomes];0.82[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]
rs3020125	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020126	1.00[ASN][1000 genomes]
rs3020128	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020131	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020133	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]
rs3020181	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35189908	0.84[ASN][1000 genomes]
rs55952416	1.00[EUR][1000 genomes]
rs56095633	0.86[AFR][1000 genomes];0.82[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[EUR][1000 genomes]
rs6993568	1.00[EUR][1000 genomes]
rs73308296	0.91[ASN][1000 genomes]
rs7820245	1.00[EUR][1000 genomes]
rs7831930	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	nsv891407	chr8:117881393-117895239	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117859600-117883800	Weak transcription	Stomach Mucosa	stomach
2	chr8:117860400-117885800	Weak transcription	Esophagus	oesophagus
3	chr8:117864400-117882400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:117864400-117885800	Weak transcription	Gastric	stomach
5	chr8:117864800-117884000	Weak transcription	Right Ventricle	heart
6	chr8:117865200-117882400	Weak transcription	Lung	lung
7	chr8:117865200-117885800	Weak transcription	Pancreas	Pancrea
8	chr8:117865600-117885800	Weak transcription	Spleen	Spleen
9	chr8:117867000-117885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:117867000-117885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:117870000-117884400	Weak transcription	Colonic Mucosa	Colon
12	chr8:117870200-117884800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:117872600-117884400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:117873000-117882600	Weak transcription	Fetal Kidney	kidney
15	chr8:117873800-117883000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:117876000-117882400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:117876000-117884600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:117876200-117882800	Weak transcription	NH-A	brain
19	chr8:117876200-117883200	Weak transcription	Fetal Intestine Large	intestine
20	chr8:117877200-117884000	Transcr. at gene 5' and 3'	Dnd41	blood
21	chr8:117877400-117885000	Enhancers	Fetal Heart	heart
22	chr8:117877800-117884400	Weak transcription	Fetal Intestine Small	intestine
23	chr8:117877800-117884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:117878200-117884400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:117878400-117882400	Weak transcription	Placenta	Placenta
26	chr8:117878400-117882800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr8:117878400-117884200	Weak transcription	Fetal Stomach	stomach
28	chr8:117878400-117884600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:117878400-117884800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:117878600-117882600	Weak transcription	Fetal Lung	lung
31	chr8:117878600-117884000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:117878600-117884800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:117878800-117883000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:117878800-117885800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr8:117879000-117882400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr8:117879000-117882800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:117879000-117883200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:117879000-117883200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:117879000-117884400	Enhancers	A549	lung
40	chr8:117879000-117884600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr8:117879000-117884600	Weak transcription	Brain Substantia Nigra	brain
42	chr8:117879600-117882400	Weak transcription	Right Atrium	heart
43	chr8:117879600-117883600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:117879600-117884600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr8:117879600-117885000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr8:117879800-117884000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:117879800-117884600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr8:117880000-117884000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr8:117880000-117884800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr8:117880200-117882800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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