Variant report

Variant	esv1006197
Chromosome Location	chr13:76692536-76696027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 181 )
Associated
traits (count: 97 )

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	rs575754656	chr13:76692541-76692542	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs2810428	chr13:76692552-76692553	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557831795	chr13:76692557-76692558	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs572779837	chr13:76692559-76692560	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375535080	chr13:76692630-76692631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540248021	chr13:76692635-76692636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192514587	chr13:76692655-76692656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555388225	chr13:76692662-76692663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368924000	chr13:76692672-76692673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541489667	chr13:76692681-76692682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539529452	chr13:76692687-76692688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544477309	chr13:76692695-76692696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140947194	chr13:76692743-76692744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144595790	chr13:76692777-76692778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560900398	chr13:76692812-76692813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541100230	chr13:76692819-76692820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543193380	chr13:76692864-76692865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147965961	chr13:76692886-76692887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570909779	chr13:76692897-76692898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553107789	chr13:76692904-76692905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61471486	chr13:76692906-76692907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs372596042	chr13:76692916-76692917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116129643	chr13:76692919-76692920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568067371	chr13:76692999-76693000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563180476	chr13:76693030-76693031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184244138	chr13:76693035-76693036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200454379	chr13:76693091-76693092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113492879	chr13:76693092-76693093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112608943	chr13:76693093-76693094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397933795	chr13:76693100-76693101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375139882	chr13:76693101-76693102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369424305	chr13:76693102-76693103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372977012	chr13:76693103-76693104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557225848	chr13:76693111-76693112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141847326	chr13:76693141-76693142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2810429	chr13:76693168-76693169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563545007	chr13:76693186-76693187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558032515	chr13:76693193-76693194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572915052	chr13:76693197-76693198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373416167	chr13:76693203-76693204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112340081	chr13:76693255-76693256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2089616	chr13:76693281-76693282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs138274177	chr13:76693316-76693317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149180952	chr13:76693326-76693327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562779097	chr13:76693349-76693350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189005772	chr13:76693363-76693364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577795181	chr13:76693365-76693366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181657700	chr13:76693379-76693380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560062910	chr13:76693384-76693385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186433166	chr13:76693391-76693392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	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
Hodgkin''s lymphoma	18641027	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Intracranial aneurysm	16715129	CNVD
Non-small cell lung cancer	19010865	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76691600-76692600	ZNF genes & repeats	Aorta	Aorta
2	chr13:76692400-76694800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:76692600-76697400	Weak transcription	Aorta	Aorta

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