Variant report

Variant	esv3367600
Chromosome Location	chr20:15140052-15143650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 170 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555728205	chr20:15140061-15140062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547794571	chr20:15140092-15140093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7272629	chr20:15140102-15140103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs432763	chr20:15140109-15140110	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541037742	chr20:15140127-15140128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552241746	chr20:15140188-15140189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570590289	chr20:15140245-15140246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6110537	chr20:15140262-15140263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563999198	chr20:15140269-15140270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538018363	chr20:15140274-15140275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369990166	chr20:15140278-15140279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199839959	chr20:15140279-15140280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374370355	chr20:15140281-15140282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs33943039	chr20:15140282-15140283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556367342	chr20:15140344-15140345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568373328	chr20:15140356-15140357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573913593	chr20:15140370-15140371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546039524	chr20:15140376-15140377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs466680	chr20:15140414-15140415	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs148692741	chr20:15140476-15140477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572394186	chr20:15140483-15140484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535484269	chr20:15140541-15140542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142200385	chr20:15140542-15140543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181330864	chr20:15140546-15140547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576427591	chr20:15140562-15140563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77634613	chr20:15140601-15140602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6131646	chr20:15140653-15140654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs151148755	chr20:15140658-15140659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541325040	chr20:15140673-15140674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547789467	chr20:15140679-15140680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139054798	chr20:15140690-15140691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11480474	chr20:15140730-15140731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11482554	chr20:15140731-15140732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397953619	chr20:15140732-15140733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559934027	chr20:15140772-15140773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112441003	chr20:15140776-15140777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184044083	chr20:15140779-15140780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs459752	chr20:15140788-15140789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs569845267	chr20:15140794-15140795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531394320	chr20:15140809-15140810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373345926	chr20:15140814-15140815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376563713	chr20:15140819-15140820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568257522	chr20:15140822-15140823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535788020	chr20:15140826-15140827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs425414	chr20:15140831-15140832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs373934429	chr20:15140836-15140837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145009067	chr20:15140844-15140845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13040595	chr20:15140858-15140859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188288604	chr20:15140934-15140935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557830057	chr20:15140963-15140964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15136800-15142800	Weak transcription	Primary T cells from cord blood	blood
2	chr20:15137400-15142200	Weak transcription	Dnd41	blood
3	chr20:15138200-15140400	Enhancers	HepG2	liver
4	chr20:15139600-15142800	Weak transcription	Liver	Liver
5	chr20:15140400-15140600	Enhancers	Small Intestine	intestine
6	chr20:15140400-15142800	Weak transcription	HepG2	liver
7	chr20:15140600-15142800	Weak transcription	Small Intestine	intestine
8	chr20:15142200-15142400	Enhancers	GM12878-XiMat	blood
9	chr20:15142200-15142800	Enhancers	Dnd41	blood
10	chr20:15142400-15142600	Flanking Active TSS	GM12878-XiMat	blood
11	chr20:15142600-15142800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr20:15142600-15142800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr20:15142600-15142800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr20:15142600-15142800	Enhancers	GM12878-XiMat	blood
15	chr20:15142800-15143000	Enhancers	Primary B cells from peripheral blood	blood
16	chr20:15142800-15143000	Enhancers	Primary hematopoietic stem cells	blood
17	chr20:15142800-15143000	Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr20:15142800-15143000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr20:15142800-15143000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr20:15142800-15143000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr20:15142800-15143000	Active TSS	Liver	Liver
22	chr20:15142800-15143000	Enhancers	Fetal Intestine Large	intestine
23	chr20:15142800-15143000	Weak transcription	Fetal Thymus	thymus
24	chr20:15142800-15143000	Enhancers	Small Intestine	intestine
25	chr20:15142800-15143000	Enhancers	Stomach Mucosa	stomach
26	chr20:15142800-15143000	Enhancers	HepG2	liver
27	chr20:15142800-15143200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr20:15142800-15143200	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr20:15142800-15143200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr20:15142800-15143200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr20:15142800-15143200	Active TSS	A549	lung
32	chr20:15142800-15143400	Active TSS	Primary T cells fromperipheralblood	blood
33	chr20:15142800-15143400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr20:15142800-15143400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr20:15142800-15143400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr20:15142800-15143400	Active TSS	Duodenum Mucosa	Duodenum
37	chr20:15142800-15143400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr20:15142800-15143400	Active TSS	Ovary	ovary
39	chr20:15142800-15143400	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr20:15142800-15143600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr20:15142800-15143600	Flanking Active TSS	GM12878-XiMat	blood
42	chr20:15142800-15143600	Active TSS	Monocytes-CD14+_RO01746	blood
43	chr20:15142800-15143800	Flanking Active TSS	Dnd41	blood
44	chr20:15143000-15143200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr20:15143000-15143200	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr20:15143000-15143200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr20:15143000-15143200	Flanking Active TSS	Fetal Thymus	thymus
48	chr20:15143000-15143400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr20:15143000-15143400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr20:15143000-15143400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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