Variant report

Variant	nsv178660
Chromosome Location	chr20:11010924-11019209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:11010266..11012512-chr20:11014160..11016300,2	K562	blood:
2	chr20:11016112..11017846-chr20:11020190..11022142,2	K562	blood:
3	chr1:45196343..45198185-chr20:11012064..11013584,2	K562	blood:
4	chr20:11010266..11012512-chr20:11014160..11016300,2	K562	blood:

Variant related genes	Relation type
ENSG00000200169	chromatin interactions

Extended variants
information (count: 370 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142530227	chr20:11010924-11010925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192972220	chr20:11010940-11010941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572489149	chr20:11010945-11010946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541511118	chr20:11010978-11010979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375296217	chr20:11010987-11010988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574476385	chr20:11010997-11010998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374873549	chr20:11011003-11011004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6040311	chr20:11011008-11011009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369176738	chr20:11011059-11011060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543377113	chr20:11011078-11011079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562462104	chr20:11011097-11011098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74611808	chr20:11011106-11011107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551294276	chr20:11011120-11011121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6104694	chr20:11011128-11011129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565079293	chr20:11011158-11011159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540946818	chr20:11011169-11011170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527424640	chr20:11011177-11011178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547502180	chr20:11011190-11011191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79755856	chr20:11011215-11011216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184207672	chr20:11011222-11011223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78012745	chr20:11011235-11011236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565603123	chr20:11011255-11011256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143962275	chr20:11011288-11011289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187895711	chr20:11011319-11011320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6108807	chr20:11011331-11011332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546223085	chr20:11011377-11011378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372674704	chr20:11011436-11011437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192302764	chr20:11011458-11011459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556557316	chr20:11011470-11011471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79321903	chr20:11011489-11011490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572577494	chr20:11011497-11011498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117837998	chr20:11011502-11011503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73898031	chr20:11011521-11011522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs377609830	chr20:11011578-11011579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184683327	chr20:11011579-11011580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543411883	chr20:11011593-11011594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375837480	chr20:11011625-11011626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189472011	chr20:11011640-11011641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576297537	chr20:11011647-11011648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76320848	chr20:11011657-11011658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564970051	chr20:11011696-11011697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370010231	chr20:11011701-11011702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6134109	chr20:11011713-11011714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527499137	chr20:11011747-11011748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373802527	chr20:11011748-11011749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376755530	chr20:11011752-11011753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541215613	chr20:11011765-11011766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6134110	chr20:11011793-11011794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6134111	chr20:11011812-11011813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541202531	chr20:11011814-11011815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Breast cancer	21804112	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	20409316	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:10988400-11015600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:11015600-11016400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr20:11015600-11016400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:11015600-11016800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr20:11015800-11016200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr20:11015800-11016200	Enhancers	HMEC	breast
7	chr20:11015800-11016200	Enhancers	HUVEC	blood vessel
8	chr20:11015800-11016400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr20:11016000-11016200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr20:11016000-11016200	Enhancers	Ovary	ovary
11	chr20:11016000-11016400	Enhancers	Aorta	Aorta
12	chr20:11016000-11016400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr20:11016200-11021400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr20:11016200-11021600	Weak transcription	HMEC	breast
15	chr20:11016400-11017200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr20:11016400-11017200	Weak transcription	Ovary	ovary
17	chr20:11016400-11021600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr20:11017200-11017400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr20:11017200-11018000	Enhancers	Ovary	ovary

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