Variant report

Variant	esv3363893
Chromosome Location	chr13:65047701-65049999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573418634	chr13:65047719-65047720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540843257	chr13:65047744-65047745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565365610	chr13:65047748-65047749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550444741	chr13:65047755-65047756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7996319	chr13:65047767-65047768	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs371430812	chr13:65047769-65047770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191738509	chr13:65047813-65047814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562965483	chr13:65047845-65047846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143066588	chr13:65047898-65047899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548246265	chr13:65047955-65047956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370764729	chr13:65048018-65048019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12430238	chr13:65048065-65048066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12430225	chr13:65048072-65048073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114576072	chr13:65048075-65048076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534758765	chr13:65048080-65048081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567058234	chr13:65048101-65048102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76761586	chr13:65048136-65048137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs36027497	chr13:65048175-65048176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370310028	chr13:65048194-65048195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34170626	chr13:65048225-65048226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184815071	chr13:65048234-65048235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571432910	chr13:65048244-65048245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190088064	chr13:65048265-65048266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553459665	chr13:65048269-65048270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571984582	chr13:65048278-65048279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539218947	chr13:65048288-65048289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534258290	chr13:65048305-65048306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559193056	chr13:65048309-65048310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577557280	chr13:65048345-65048346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146142328	chr13:65048349-65048350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562977869	chr13:65048418-65048419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181819075	chr13:65048439-65048440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542232534	chr13:65048459-65048460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368773580	chr13:65048490-65048491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148775748	chr13:65048532-65048533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372165529	chr13:65048566-65048567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527672023	chr13:65048574-65048575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552232450	chr13:65048592-65048593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2067668	chr13:65048598-65048599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142420039	chr13:65048609-65048610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532580561	chr13:65048652-65048653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185020915	chr13:65048707-65048708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1889957	chr13:65048737-65048738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189486686	chr13:65048740-65048741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75174505	chr13:65048749-65048750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529502438	chr13:65048778-65048779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150874264	chr13:65048816-65048817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139329411	chr13:65048823-65048824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11843899	chr13:65048831-65048832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs76954434	chr13:65048840-65048841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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	15273396	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	chr13:65046800-65047800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:65047200-65050200	Weak transcription	A549	lung

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