Variant report

Variant	nsv912790
Chromosome Location	chr20:15317978-15352001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:15349649..15350459-chr6:35465170..35465747,2	MCF-7	breast:

Extended variants
information (count: 1065 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1065 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16995555	chr20:15317978-15317979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546053976	chr20:15318008-15318009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371830809	chr20:15318109-15318110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188326243	chr20:15318128-15318129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180800230	chr20:15318143-15318144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184910838	chr20:15318164-15318165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76941429	chr20:15318232-15318233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575301810	chr20:15318237-15318238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190897705	chr20:15318243-15318244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554706839	chr20:15318303-15318304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200063463	chr20:15318348-15318349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572809159	chr20:15318438-15318439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369058813	chr20:15318448-15318449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73265070	chr20:15318499-15318500	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558440788	chr20:15318508-15318509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577097191	chr20:15318559-15318560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544163463	chr20:15318580-15318581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141967685	chr20:15318585-15318586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530034927	chr20:15318586-15318587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145732853	chr20:15318610-15318611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531846783	chr20:15318621-15318622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372884338	chr20:15318624-15318625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560226990	chr20:15318699-15318700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538309891	chr20:15318722-15318723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183126561	chr20:15318732-15318733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187116543	chr20:15318764-15318765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2423935	chr20:15318767-15318768	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs532072341	chr20:15318778-15318779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2423936	chr20:15318782-15318783	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs148226551	chr20:15318807-15318808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529253093	chr20:15318808-15318809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2423937	chr20:15318813-15318814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs566009819	chr20:15318848-15318849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566584616	chr20:15318873-15318874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533629735	chr20:15318901-15318902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558751405	chr20:15318914-15318915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553973704	chr20:15318945-15318946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80201023	chr20:15318950-15318951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556044633	chr20:15318953-15318954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574352328	chr20:15318977-15318978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371376417	chr20:15319024-15319025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376776993	chr20:15319053-15319054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113013191	chr20:15319065-15319066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6079765	chr20:15319135-15319136	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs560263097	chr20:15319157-15319158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527817068	chr20:15319174-15319175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545970031	chr20:15319182-15319183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564747176	chr20:15319276-15319277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531815092	chr20:15319290-15319291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200896811	chr20:15319330-15319331	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15316800-15319200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr20:15317400-15318400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr20:15318200-15318400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr20:15318400-15318600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr20:15318400-15319000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr20:15318600-15318800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr20:15319000-15320400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr20:15319200-15319600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr20:15319400-15320200	Enhancers	Colon Smooth Muscle	Colon
10	chr20:15319600-15320200	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr20:15323200-15324200	Enhancers	Liver	Liver
12	chr20:15323200-15324600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr20:15323400-15323600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr20:15323400-15323800	Enhancers	Adipose Nuclei	Adipose
15	chr20:15323600-15324000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr20:15323600-15324600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr20:15324000-15324600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr20:15325400-15325600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr20:15325600-15326400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr20:15326400-15326800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr20:15326400-15327200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr20:15327400-15327600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr20:15327400-15327800	Enhancers	HMEC	breast
24	chr20:15327400-15328000	Enhancers	NHEK	skin
25	chr20:15327600-15346800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr20:15328800-15329000	ZNF genes & repeats	Pancreas	Pancrea
27	chr20:15335600-15337200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr20:15339400-15339800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr20:15339400-15339800	Enhancers	A549	lung
30	chr20:15339400-15339800	Enhancers	HMEC	breast
31	chr20:15339600-15340600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr20:15343600-15343800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr20:15343600-15344000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr20:15343600-15344000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr20:15343600-15344000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr20:15343600-15344200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr20:15343600-15344200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr20:15343600-15344200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr20:15343600-15345000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr20:15343800-15344200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr20:15343800-15344200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr20:15344400-15344600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr20:15349400-15349800	Enhancers	Duodenum Mucosa	Duodenum
44	chr20:15349800-15350600	Enhancers	Fetal Heart	heart
45	chr20:15349800-15351200	Enhancers	Brain Germinal Matrix	brain
46	chr20:15350000-15350600	Active TSS	Stomach Smooth Muscle	stomach
47	chr20:15350000-15350800	Enhancers	Colon Smooth Muscle	Colon
48	chr20:15350200-15350400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr20:15350200-15350800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr20:15350600-15352000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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