Variant report

Variant	esv3336082
Chromosome Location	chr13:70512501-70514699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545011990	chr13:70512570-70512571	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs187979844	chr13:70512585-70512586	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs116099025	chr13:70512596-70512597	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs371196286	chr13:70512625-70512626	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs77236756	chr13:70512659-70512660	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs563588903	chr13:70512683-70512684	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs868116	chr13:70512698-70512699	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs549303897	chr13:70512728-70512729	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs566051608	chr13:70512787-70512788	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs528439212	chr13:70512796-70512797	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs551760280	chr13:70512819-70512820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71429627	chr13:70512884-70512885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371618403	chr13:70512893-70512894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376754167	chr13:70512914-70512915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs36002995	chr13:70512923-70512924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537597939	chr13:70512927-70512928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536543643	chr13:70512945-70512946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557181833	chr13:70513010-70513011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567502926	chr13:70513108-70513109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35692819	chr13:70513230-70513231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1888899	chr13:70513238-70513239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2875575	chr13:70513244-70513245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1888900	chr13:70513262-70513263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554422471	chr13:70513389-70513390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192554044	chr13:70513402-70513403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9599525	chr13:70513404-70513405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184588276	chr13:70513416-70513417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34074889	chr13:70513472-70513473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368264590	chr13:70513473-70513474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563527581	chr13:70513484-70513485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529416803	chr13:70513488-70513489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112039148	chr13:70513508-70513509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4997494	chr13:70513510-70513511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60422801	chr13:70513511-70513512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375600830	chr13:70513512-70513513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2501210	chr13:70513522-70513523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368690033	chr13:70513523-70513524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542825511	chr13:70513536-70513537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577642609	chr13:70513564-70513565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573991641	chr13:70513570-70513571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116788337	chr13:70513624-70513625	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs79147307	chr13:70513625-70513626	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs186516940	chr13:70513628-70513629	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs149075661	chr13:70513668-70513669	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs545021785	chr13:70513695-70513696	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs551121857	chr13:70513708-70513709	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs117670285	chr13:70513729-70513730	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs114790240	chr13:70513773-70513774	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs386772055	chr13:70513774-70513775	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs566604281	chr13:70513775-70513776	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	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
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	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
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70510600-70512800	Active TSS	Hela-S3	cervix
2	chr13:70512200-70512600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr13:70512800-70513600	Weak transcription	Hela-S3	cervix
4	chr13:70513600-70514400	Active TSS	Hela-S3	cervix
5	chr13:70514400-70515200	Weak transcription	Hela-S3	cervix

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