Variant report

Variant	esv2760297
Chromosome Location	chr13:76610840-76612996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10507846	chr13:76610840-76610841	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142313045	chr13:76610939-76610940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527482088	chr13:76610954-76610955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183726727	chr13:76610978-76610979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370213914	chr13:76610995-76610996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561807376	chr13:76611016-76611017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529306034	chr13:76611036-76611037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189313183	chr13:76611041-76611042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55775631	chr13:76611100-76611101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539782134	chr13:76611104-76611105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192670466	chr13:76611129-76611130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577455148	chr13:76611164-76611165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567071103	chr13:76611209-76611210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534347571	chr13:76611284-76611285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11149014	chr13:76611307-76611308	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs573626400	chr13:76611312-76611313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537923663	chr13:76611327-76611328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555920862	chr13:76611342-76611343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146169253	chr13:76611359-76611360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368056837	chr13:76611362-76611363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1461987	chr13:76611432-76611433	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs559970066	chr13:76611433-76611434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571920841	chr13:76611464-76611465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542381438	chr13:76611477-76611478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114394776	chr13:76611509-76611510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17065521	chr13:76611517-76611518	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs148262808	chr13:76611570-76611571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562785911	chr13:76611578-76611579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201122166	chr13:76611587-76611588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35922215	chr13:76611589-76611590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528025532	chr13:76611601-76611602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141268619	chr13:76611659-76611660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372286932	chr13:76611683-76611684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150343323	chr13:76611692-76611693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566610676	chr13:76611712-76611713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552111248	chr13:76611719-76611720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567133906	chr13:76611755-76611756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534414091	chr13:76611759-76611760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12428109	chr13:76611779-76611780	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs9600631	chr13:76611780-76611781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567832338	chr13:76611814-76611815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537585035	chr13:76611881-76611882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116052477	chr13:76611883-76611884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560792419	chr13:76611889-76611890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185123630	chr13:76611906-76611907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79719946	chr13:76611971-76611972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553667550	chr13:76611979-76611980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571298426	chr13:76612020-76612021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571984060	chr13:76612050-76612051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138834832	chr13:76612054-76612055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	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
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Intracranial aneurysm	16715129	CNVD
Non-small cell lung cancer	19010865	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76608000-76612000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:76609600-76611000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:76609600-76613800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:76609800-76611000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr13:76610400-76611400	Enhancers	K562	blood
6	chr13:76610400-76611600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:76610600-76611400	Enhancers	Brain Anterior Caudate	brain
8	chr13:76610600-76611600	Enhancers	Fetal Lung	lung
9	chr13:76610600-76611800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:76610600-76612400	Enhancers	Fetal Thymus	thymus
11	chr13:76611200-76612000	Enhancers	Thymus	Thymus
12	chr13:76611400-76613000	Weak transcription	Brain Anterior Caudate	brain
13	chr13:76611600-76612200	Weak transcription	Fetal Lung	lung
14	chr13:76611800-76613200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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