Variant report

Variant	esv3420389
Chromosome Location	chr13:70529701-70530949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574054558	chr13:70529735-70529736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146844330	chr13:70529736-70529737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139784403	chr13:70529824-70529825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371324942	chr13:70529834-70529835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144458691	chr13:70529840-70529841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545202250	chr13:70529866-70529867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564970298	chr13:70529890-70529891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530752446	chr13:70529905-70529906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183429604	chr13:70529959-70529960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9788409	chr13:70529980-70529981	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188487032	chr13:70530002-70530003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564124542	chr13:70530012-70530013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371512155	chr13:70530014-70530015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561984409	chr13:70530045-70530046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559417793	chr13:70530047-70530048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529601714	chr13:70530057-70530058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12020157	chr13:70530074-70530075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570913158	chr13:70530076-70530077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34228544	chr13:70530077-70530078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9788338	chr13:70530137-70530138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9788391	chr13:70530139-70530140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112867883	chr13:70530150-70530151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191228649	chr13:70530176-70530177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568432489	chr13:70530196-70530197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202018478	chr13:70530281-70530282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576110173	chr13:70530289-70530290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200280955	chr13:70530306-70530307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569836809	chr13:70530315-70530316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559379081	chr13:70530316-70530317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546228643	chr13:70530332-70530333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368189499	chr13:70530370-70530371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538373840	chr13:70530427-70530428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111915794	chr13:70530464-70530465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17085756	chr13:70530535-70530536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs571714695	chr13:70530572-70530573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537673417	chr13:70530575-70530576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566427190	chr13:70530648-70530649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60954548	chr13:70530659-70530660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs146426298	chr13:70530711-70530712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17085765	chr13:70530725-70530726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553432387	chr13:70530763-70530764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573361807	chr13:70530798-70530799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117827946	chr13:70530837-70530838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376245447	chr13:70530875-70530876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17085771	chr13:70530878-70530879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs111812228	chr13:70530882-70530883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17085776	chr13:70530900-70530901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs140671896	chr13:70530915-70530916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560837523	chr13:70530928-70530929	Weak transcription	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70525400-70533200	Weak transcription	Hela-S3	cervix
2	chr13:70528600-70529800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr13:70528600-70530000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:70530000-70533200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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