Variant report

Variant	esv275179
Chromosome Location	chr13:62809274-62818093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs965797	chr13:62809274-62809275	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553330209	chr13:62809320-62809321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367810780	chr13:62809350-62809351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559055919	chr13:62809373-62809374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577386998	chr13:62809409-62809410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs965798	chr13:62809448-62809449	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144327752	chr13:62809472-62809473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530314681	chr13:62809514-62809515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs56144925	chr13:62809549-62809550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192647622	chr13:62809616-62809617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536150681	chr13:62809635-62809636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551869920	chr13:62809648-62809649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570423160	chr13:62809662-62809663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531560954	chr13:62809666-62809667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549692534	chr13:62809670-62809671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568382207	chr13:62809690-62809691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535743090	chr13:62809723-62809724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563931579	chr13:62809837-62809838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139218240	chr13:62809840-62809841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3223247	chr13:62809865-62809866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73493941	chr13:62809876-62809877	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs578257949	chr13:62809883-62809884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200111439	chr13:62809889-62809890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71199095	chr13:62809892-62809893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3030117	chr13:62809930-62809931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147473263	chr13:62810028-62810029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559033655	chr13:62810062-62810063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs728545	chr13:62810065-62810066	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544825852	chr13:62810066-62810067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139983483	chr13:62810069-62810070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574841742	chr13:62810079-62810080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542120972	chr13:62810105-62810106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560379910	chr13:62810145-62810146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74770124	chr13:62810168-62810169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182179149	chr13:62810181-62810182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186822586	chr13:62810213-62810214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142793165	chr13:62810307-62810308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549994120	chr13:62810314-62810315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73493945	chr13:62810426-62810427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs4886401	chr13:62810474-62810475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116434464	chr13:62810573-62810574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113695569	chr13:62810637-62810638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547733456	chr13:62810683-62810684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566822959	chr13:62810794-62810795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78133221	chr13:62810809-62810810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113171122	chr13:62810868-62810869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565954065	chr13:62810877-62810878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150625637	chr13:62810924-62810925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571401478	chr13:62810929-62810930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34785368	chr13:62810930-62810931	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

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
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62809200-62811200	Enhancers	Fetal Lung	lung
2	chr13:62817600-62818000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:62818000-62824000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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