Variant report

Variant	nsv178857
Chromosome Location	chr20:22693441-22700741
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	chr20:22697134..22699527-chr20:22702213..22704655,2	K562	blood:
2	chr20:22698060..22699692-chr20:22703539..22705763,2	K562	blood:

Extended variants
information (count: 314 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112260756	chr20:22693526-22693527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140818401	chr20:22693531-22693532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542175607	chr20:22693555-22693556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559305086	chr20:22693570-22693571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528149616	chr20:22693577-22693578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551472675	chr20:22693578-22693579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188826564	chr20:22693592-22693593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531107606	chr20:22693595-22693596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138460777	chr20:22693625-22693626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148875872	chr20:22693671-22693672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530417122	chr20:22693700-22693701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114298526	chr20:22693707-22693708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566874038	chr20:22693711-22693712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180796385	chr20:22693793-22693794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185410871	chr20:22693841-22693842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114753964	chr20:22693845-22693846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs8115271	chr20:22693883-22693884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556747687	chr20:22693920-22693921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35091110	chr20:22693922-22693923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573553040	chr20:22693948-22693949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143573438	chr20:22693962-22693963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552663625	chr20:22693963-22693964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191115473	chr20:22693967-22693968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183703362	chr20:22693968-22693969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187425225	chr20:22694006-22694007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543451631	chr20:22694014-22694015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370244820	chr20:22694016-22694017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6113776	chr20:22694065-22694066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576591418	chr20:22694077-22694078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191391385	chr20:22694079-22694080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544766457	chr20:22694084-22694085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561485776	chr20:22694100-22694101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183056293	chr20:22694161-22694162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530382544	chr20:22694199-22694200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35888991	chr20:22694263-22694264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558678441	chr20:22694264-22694265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563424834	chr20:22694269-22694270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs398035525	chr20:22694274-22694275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs397864615	chr20:22694275-22694276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547256077	chr20:22694278-22694279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567077831	chr20:22694281-22694282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186978158	chr20:22694284-22694285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138193885	chr20:22694288-22694289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190241942	chr20:22694327-22694328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143763140	chr20:22694340-22694341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6132541	chr20:22694388-22694389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567142890	chr20:22694389-22694390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570113941	chr20:22694415-22694416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182130084	chr20:22694443-22694444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553212593	chr20:22694455-22694456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22687200-22697400	Weak transcription	Aorta	Aorta
2	chr20:22692800-22697200	Weak transcription	Stomach Mucosa	stomach
3	chr20:22693200-22697000	Weak transcription	Hela-S3	cervix
4	chr20:22693400-22695000	Weak transcription	A549	lung
5	chr20:22693400-22697400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:22696000-22701000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr20:22696200-22698800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr20:22696400-22696800	Weak transcription	A549	lung
9	chr20:22696800-22697400	Enhancers	HUVEC	blood vessel
10	chr20:22696800-22700600	Enhancers	Primary hematopoietic stem cells	blood
11	chr20:22697000-22697400	Enhancers	A549	lung
12	chr20:22697000-22697400	Enhancers	Hela-S3	cervix
13	chr20:22697000-22698400	Enhancers	HMEC	breast
14	chr20:22697000-22700400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr20:22697000-22700600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr20:22697200-22698400	Enhancers	HSMM	muscle
17	chr20:22697200-22700600	Enhancers	Stomach Mucosa	stomach
18	chr20:22697400-22697600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr20:22697400-22697800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr20:22697400-22697800	Enhancers	Placenta	Placenta
21	chr20:22697400-22697800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr20:22697400-22697800	Enhancers	Spleen	Spleen
23	chr20:22697400-22697800	Flanking Active TSS	Hela-S3	cervix
24	chr20:22697400-22698000	Enhancers	Adipose Nuclei	Adipose
25	chr20:22697400-22698400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr20:22697400-22698400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr20:22697400-22698400	Enhancers	Aorta	Aorta
28	chr20:22697400-22698400	Enhancers	Ovary	ovary
29	chr20:22697400-22698400	Enhancers	Right Atrium	heart
30	chr20:22697400-22698400	Enhancers	Right Ventricle	heart
31	chr20:22697400-22698400	Enhancers	Dnd41	blood
32	chr20:22697400-22698400	Enhancers	HSMMtube	muscle
33	chr20:22697400-22698600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr20:22697400-22698600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr20:22697400-22698600	Flanking Active TSS	A549	lung
36	chr20:22697400-22698600	Enhancers	NHEK	skin
37	chr20:22697400-22698800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr20:22697400-22698800	Flanking Active TSS	HUVEC	blood vessel
39	chr20:22697400-22699800	Enhancers	Lung	lung
40	chr20:22697400-22700200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr20:22697400-22700200	Enhancers	Gastric	stomach
42	chr20:22697400-22700600	Enhancers	Fetal Muscle Leg	muscle
43	chr20:22697400-22700600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr20:22697400-22701000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr20:22697600-22698200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr20:22697600-22698400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr20:22697600-22698400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr20:22697600-22698600	Enhancers	Fetal Heart	heart
49	chr20:22697600-22699200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr20:22697600-22699800	Enhancers	Left Ventricle	heart

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