Variant report

Variant	nsv1061171
Chromosome Location	chr20:16011943-16024267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 460 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs775117	chr20:16011943-16011944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573537757	chr20:16011952-16011953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61575670	chr20:16011983-16011984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531654850	chr20:16011988-16011989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183434101	chr20:16012004-16012005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6034352	chr20:16012010-16012011	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535253806	chr20:16012018-16012019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540690391	chr20:16012055-16012056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188835397	chr20:16012102-16012103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142404965	chr20:16012115-16012116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557718496	chr20:16012124-16012125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535151008	chr20:16012132-16012133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375881337	chr20:16012134-16012135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145993248	chr20:16012182-16012183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145557670	chr20:16012216-16012217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555737658	chr20:16012230-16012231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574188144	chr20:16012260-16012261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115322843	chr20:16012309-16012310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553858277	chr20:16012310-16012311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117260183	chr20:16012336-16012337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6034353	chr20:16012375-16012376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369374277	chr20:16012376-16012377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59705966	chr20:16012425-16012426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs35518502	chr20:16012443-16012444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560948045	chr20:16012458-16012459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531283456	chr20:16012501-16012502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572855646	chr20:16012526-16012527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543707635	chr20:16012540-16012541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529849760	chr20:16012546-16012547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368436446	chr20:16012558-16012559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561823876	chr20:16012602-16012603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75482316	chr20:16012731-16012732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547256289	chr20:16012747-16012748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371733243	chr20:16012786-16012787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12625655	chr20:16012874-16012875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551434277	chr20:16012884-16012885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569718162	chr20:16012901-16012902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73597746	chr20:16012937-16012938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556067164	chr20:16012944-16012945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148910655	chr20:16012952-16012953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192444700	chr20:16012988-16012989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553305743	chr20:16012993-16012994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61043991	chr20:16013056-16013057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs113414799	chr20:16013086-16013087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545915377	chr20:16013177-16013178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568274529	chr20:16013194-16013195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564036683	chr20:16013195-16013196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373203157	chr20:16013196-16013197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576144527	chr20:16013213-16013214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569717436	chr20:16013233-16013234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15998400-16012000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:16009000-16017200	Weak transcription	Fetal Brain Male	brain
3	chr20:16009200-16014200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr20:16011200-16016600	Weak transcription	Primary B cells from cord blood	blood
5	chr20:16011400-16017200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr20:16012000-16012200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr20:16014200-16014800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr20:16014400-16014600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr20:16015800-16016000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr20:16016000-16016200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr20:16016000-16016400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr20:16016000-16016600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr20:16016200-16016800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr20:16016200-16019400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr20:16016400-16017600	Enhancers	HSMM	muscle
16	chr20:16016600-16016800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr20:16016600-16016800	Enhancers	HSMMtube	muscle
18	chr20:16016600-16017400	Strong transcription	Primary B cells from cord blood	blood
19	chr20:16016800-16030000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr20:16017200-16017600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr20:16017200-16017600	Enhancers	Fetal Brain Male	brain
22	chr20:16017200-16017800	Enhancers	Ovary	ovary
23	chr20:16017200-16018000	Enhancers	Primary B cells from peripheral blood	blood
24	chr20:16017400-16017600	Enhancers	HSMMtube	muscle
25	chr20:16017400-16018000	Genic enhancers	Primary B cells from cord blood	blood
26	chr20:16018000-16019600	Weak transcription	Primary B cells from cord blood	blood
27	chr20:16018000-16019600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr20:16019400-16019600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr20:16019600-16021000	Enhancers	Primary B cells from cord blood	blood
30	chr20:16019600-16023000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr20:16019600-16024600	Enhancers	Primary hematopoietic stem cells	blood
32	chr20:16019600-16025600	Enhancers	Primary B cells from peripheral blood	blood
33	chr20:16020200-16021200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr20:16020200-16024000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr20:16020400-16020800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr20:16021000-16021400	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr20:16021200-16021600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr20:16021200-16022400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr20:16021200-16023000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr20:16021400-16021800	Enhancers	Primary B cells from cord blood	blood
41	chr20:16021600-16023800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr20:16021800-16022600	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr20:16022600-16023800	Enhancers	Primary B cells from cord blood	blood
44	chr20:16023000-16024200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr20:16023200-16024200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr20:16023200-16024600	Enhancers	Fetal Brain Female	brain
47	chr20:16023800-16024000	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr20:16023800-16030200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr20:16024000-16024600	Enhancers	Primary B cells from cord blood	blood
50	chr20:16024000-16030000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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