Variant report

Variant	esv3400765
Chromosome Location	chr13:70051000-70083182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 755 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:755 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114526355	chr13:70051025-70051026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141125304	chr13:70051040-70051041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1854745	chr13:70051049-70051050	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7491478	chr13:70051059-70051060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554322313	chr13:70051105-70051106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540928156	chr13:70051112-70051113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563996306	chr13:70051136-70051137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367563970	chr13:70051165-70051166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376399317	chr13:70051169-70051170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112369314	chr13:70051176-70051177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543575644	chr13:70051183-70051184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201257391	chr13:70051188-70051189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563316221	chr13:70051192-70051193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7491534	chr13:70051218-70051219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184110363	chr13:70051222-70051223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199796892	chr13:70051349-70051350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182882274	chr13:70051352-70051353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200824886	chr13:70051360-70051361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527563883	chr13:70051361-70051362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375375419	chr13:70057602-70057603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs541407548	chr13:70057603-70057604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs572490255	chr13:70057604-70057605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs145393912	chr13:70057616-70057617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs564487670	chr13:70057653-70057654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs147665212	chr13:70057661-70057662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs544090241	chr13:70057663-70057664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs554264799	chr13:70057668-70057669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs189369886	chr13:70057717-70057718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs529404528	chr13:70057729-70057730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs548681803	chr13:70057730-70057731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs565407657	chr13:70057734-70057735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs528166973	chr13:70057735-70057736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs551124476	chr13:70057762-70057763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs118124415	chr13:70057763-70057764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs181735387	chr13:70057778-70057779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs557246893	chr13:70057784-70057785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs140826836	chr13:70057796-70057797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs536418641	chr13:70057809-70057810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs371769289	chr13:70057824-70057825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs546125916	chr13:70057833-70057834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs555920524	chr13:70057837-70057838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs572602915	chr13:70057856-70057857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs9599466	chr13:70057886-70057887	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs145825445	chr13:70057887-70057888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs116960292	chr13:70057912-70057913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs543767584	chr13:70057923-70057924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs563603379	chr13:70057926-70057927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs9529586	chr13:70057927-70057928	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542839959	chr13:70057944-70057945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs148972667	chr13:70057952-70057953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70049400-70051000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:70051000-70051400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:70057600-70058400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:70058200-70059400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr13:70060400-70062200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:70069000-70069600	Enhancers	Fetal Brain Male	brain
7	chr13:70069200-70069600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:70069200-70069600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:70069200-70069600	Enhancers	Fetal Brain Female	brain
10	chr13:70069600-70070600	Weak transcription	Fetal Brain Female	brain
11	chr13:70069600-70072200	Weak transcription	Fetal Brain Male	brain
12	chr13:70070600-70072000	Enhancers	Fetal Brain Female	brain
13	chr13:70072200-70072600	Enhancers	Fetal Brain Male	brain
14	chr13:70072600-70082200	Weak transcription	Fetal Brain Male	brain
15	chr13:70082200-70082400	Enhancers	Fetal Brain Male	brain

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