Variant report

Variant	nsv519656
Chromosome Location	chr13:85052477-85061028
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 181 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:181 , 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	rs9546709	chr13:85052477-85052478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111511927	chr13:85052518-85052519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143236561	chr13:85052521-85052522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183497618	chr13:85052559-85052560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9546710	chr13:85052568-85052569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543975199	chr13:85052581-85052582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188548757	chr13:85052586-85052587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375526078	chr13:85052643-85052644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561622532	chr13:85052647-85052648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530565007	chr13:85052672-85052673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112488928	chr13:85052743-85052744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570399743	chr13:85052915-85052916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532683639	chr13:85052955-85052956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117529417	chr13:85052976-85052977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117471139	chr13:85053000-85053001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7983045	chr13:85053039-85053040	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs117060318	chr13:85053064-85053065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547300437	chr13:85053079-85053080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74101168	chr13:85053080-85053081	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191996226	chr13:85053090-85053091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183338527	chr13:85053126-85053127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35362045	chr13:85053138-85053139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79659123	chr13:85053141-85053142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557090124	chr13:85053204-85053205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372590370	chr13:85053218-85053219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112854708	chr13:85053235-85053236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186975262	chr13:85053240-85053241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111546350	chr13:85053259-85053260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573117945	chr13:85053281-85053282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7981966	chr13:85053305-85053306	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs75489442	chr13:85053314-85053315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7982620	chr13:85053336-85053337	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544261457	chr13:85053341-85053342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191343722	chr13:85053344-85053345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569357522	chr13:85053357-85053358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532720654	chr13:85053361-85053362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552491261	chr13:85053393-85053394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566016634	chr13:85053420-85053421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184301205	chr13:85053423-85053424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144126714	chr13:85053434-85053435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552582408	chr13:85053444-85053445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142142739	chr13:85053448-85053449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60660970	chr13:85053449-85053450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376130430	chr13:85053450-85053451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554108774	chr13:85053451-85053452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11842048	chr13:85053453-85053454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145508464	chr13:85053459-85053460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139065707	chr13:85053463-85053464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs68154061	chr13:85053474-85053475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142464157	chr13:85053478-85053479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	20502679	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85045200-85055200	Weak transcription	Aorta	Aorta
2	chr13:85052600-85053800	Enhancers	Osteobl	bone
3	chr13:85052600-85054200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr13:85052800-85053000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr13:85052800-85053800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:85053000-85054000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:85053200-85054600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:85053200-85054600	Enhancers	HMEC	breast
9	chr13:85053200-85054600	Enhancers	NHEK	skin
10	chr13:85053400-85054000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:85053600-85054400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:85053800-85054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:85054000-85054600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr13:85054000-85056000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:85054200-85055800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:85054800-85055400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:85055400-85055800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:85055600-85056600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:85055800-85056400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:85055800-85056600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:85056000-85056600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:85056200-85056400	Enhancers	HMEC	breast
23	chr13:85056200-85056400	Enhancers	NHEK	skin

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