Variant report

Variant	esv989362
Chromosome Location	chr13:65342334-65344390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142526237	chr13:65342356-65342357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146430530	chr13:65342418-65342419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569733969	chr13:65342434-65342435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11617114	chr13:65342461-65342462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548977994	chr13:65342474-65342475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139795872	chr13:65342494-65342495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534652052	chr13:65342512-65342513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558182434	chr13:65342547-65342548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571696726	chr13:65342653-65342654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143912617	chr13:65342733-65342734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146864446	chr13:65342752-65342753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185073812	chr13:65342824-65342825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543211549	chr13:65342909-65342910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190272986	chr13:65342910-65342911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140689769	chr13:65342923-65342924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150453664	chr13:65342928-65342929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145269478	chr13:65343021-65343022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9540214	chr13:65343028-65343029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs55750718	chr13:65343063-65343064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59080847	chr13:65343064-65343065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181240771	chr13:65343066-65343067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9540215	chr13:65343070-65343071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs114518166	chr13:65343109-65343110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76162696	chr13:65343155-65343156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200968414	chr13:65343168-65343169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35992334	chr13:65343172-65343173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186324594	chr13:65343192-65343193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149170687	chr13:65343315-65343316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537466332	chr13:65343318-65343319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143271123	chr13:65343323-65343324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202047480	chr13:65343333-65343334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538018045	chr13:65343403-65343404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113753672	chr13:65343410-65343411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553527211	chr13:65343435-65343436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77254982	chr13:65343476-65343477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573383796	chr13:65343486-65343487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545279441	chr13:65343509-65343510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191635699	chr13:65343536-65343537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139045260	chr13:65343537-65343538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372173813	chr13:65343570-65343571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183589230	chr13:65343671-65343672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188881474	chr13:65343676-65343677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574226665	chr13:65343728-65343729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535262107	chr13:65343784-65343785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77234806	chr13:65343818-65343819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142946997	chr13:65343841-65343842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192274945	chr13:65343886-65343887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372888423	chr13:65343966-65343967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146257932	chr13:65343967-65343968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528312945	chr13:65343968-65343969	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Multiple myeloma	17550852	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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65341800-65343400	Weak transcription	HUVEC	blood vessel
2	chr13:65343400-65344200	Enhancers	HUVEC	blood vessel

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