Variant report

Variant	esv3518606
Chromosome Location	chr13:65352177-65353685
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569461395	chr13:65352187-65352188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143014354	chr13:65352270-65352271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148185665	chr13:65352283-65352284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567239282	chr13:65352304-65352305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143334126	chr13:65352325-65352326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147526291	chr13:65352339-65352340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77451945	chr13:65352364-65352365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140089323	chr13:65352404-65352405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539885211	chr13:65352415-65352416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575430602	chr13:65352431-65352432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74965325	chr13:65352469-65352470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575594090	chr13:65352470-65352471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75450049	chr13:65352481-65352482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201499572	chr13:65352499-65352500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77283720	chr13:65352501-65352502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554465913	chr13:65352508-65352509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143992163	chr13:65352532-65352533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540223023	chr13:65352546-65352547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150651909	chr13:65352561-65352562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184945012	chr13:65352593-65352594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139761048	chr13:65352605-65352606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188617288	chr13:65352606-65352607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149779760	chr13:65352616-65352617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556679439	chr13:65352646-65352647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562375802	chr13:65352686-65352687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181690399	chr13:65352688-65352689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184525869	chr13:65352689-65352690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566504396	chr13:65352703-65352704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367819612	chr13:65352728-65352729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145721028	chr13:65352739-65352740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568930629	chr13:65352763-65352764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538048926	chr13:65352764-65352765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370175364	chr13:65352782-65352783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189622669	chr13:65352829-65352830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149780504	chr13:65352864-65352865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373556687	chr13:65352866-65352867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367869877	chr13:65352888-65352889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200643923	chr13:65352889-65352890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201933726	chr13:65352890-65352891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199686941	chr13:65352893-65352894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1606459	chr13:65352940-65352941	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs3011560	chr13:65352958-65352959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553734749	chr13:65352988-65352989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139470547	chr13:65353015-65353016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74345284	chr13:65353030-65353031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553132871	chr13:65353031-65353032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74757621	chr13:65353034-65353035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182434445	chr13:65353041-65353042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576638094	chr13:65353092-65353093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150644090	chr13:65353124-65353125	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	chr13:65351200-65353200	Enhancers	HUVEC	blood vessel
2	chr13:65352200-65352600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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