Variant report

Variant	nsv516991
Chromosome Location	chr13:76610127-76634901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76613524..76614133-chr13:77047364..77048499,5	MCF-7	breast:
2	chr13:76613162..76614105-chr13:77047335..77048422,4	MCF-7	breast:

Extended variants
information (count: 831 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:831 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7997251	chr13:76610127-76610128	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149815569	chr13:76610151-76610152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115169652	chr13:76610177-76610178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528891370	chr13:76610220-76610221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557470623	chr13:76610238-76610239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575733629	chr13:76610265-76610266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188406434	chr13:76610277-76610278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10507843	chr13:76610290-76610291	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538328192	chr13:76610292-76610293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533167929	chr13:76610315-76610316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376947324	chr13:76610370-76610371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551259426	chr13:76610385-76610386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566309082	chr13:76610404-76610405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34850456	chr13:76610474-76610475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192816517	chr13:76610487-76610488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573585447	chr13:76610516-76610517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184870297	chr13:76610522-76610523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10507844	chr13:76610561-76610562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10507845	chr13:76610578-76610579	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187748567	chr13:76610588-76610589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373932869	chr13:76610614-76610615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564868988	chr13:76610616-76610617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569417639	chr13:76610681-76610682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9565224	chr13:76610689-76610690	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558420868	chr13:76610690-76610691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573462764	chr13:76610715-76610716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532183928	chr13:76610716-76610717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550677156	chr13:76610717-76610718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376519091	chr13:76610723-76610724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371696782	chr13:76610728-76610729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146939260	chr13:76610748-76610749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543827376	chr13:76610762-76610763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191229314	chr13:76610765-76610766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562822217	chr13:76610766-76610767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80065706	chr13:76610773-76610774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540427122	chr13:76610788-76610789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10507846	chr13:76610840-76610841	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs142313045	chr13:76610939-76610940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527482088	chr13:76610954-76610955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183726727	chr13:76610978-76610979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370213914	chr13:76610995-76610996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561807376	chr13:76611016-76611017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529306034	chr13:76611036-76611037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189313183	chr13:76611041-76611042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55775631	chr13:76611100-76611101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539782134	chr13:76611104-76611105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192670466	chr13:76611129-76611130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577455148	chr13:76611164-76611165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567071103	chr13:76611209-76611210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534347571	chr13:76611284-76611285	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76608000-76612000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:76609000-76610400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:76609600-76610200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:76609600-76611000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:76609600-76613800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:76609800-76610800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:76609800-76610800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:76609800-76611000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr13:76610400-76610600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:76610400-76611400	Enhancers	K562	blood
11	chr13:76610400-76611600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:76610600-76611400	Enhancers	Brain Anterior Caudate	brain
13	chr13:76610600-76611600	Enhancers	Fetal Lung	lung
14	chr13:76610600-76611800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:76610600-76612400	Enhancers	Fetal Thymus	thymus
16	chr13:76611200-76612000	Enhancers	Thymus	Thymus
17	chr13:76611400-76613000	Weak transcription	Brain Anterior Caudate	brain
18	chr13:76611600-76612200	Weak transcription	Fetal Lung	lung
19	chr13:76611800-76613200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr13:76613000-76613800	Enhancers	Brain Anterior Caudate	brain
21	chr13:76613400-76613800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:76613600-76613800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:76613800-76617400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:76617400-76618200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:76617600-76618400	Enhancers	Brain Hippocampus Middle	brain
26	chr13:76617800-76618400	Enhancers	Fetal Lung	lung
27	chr13:76618000-76618200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr13:76618000-76618400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:76618000-76618400	Enhancers	Brain Angular Gyrus	brain
30	chr13:76618000-76618400	Enhancers	Brain Cingulate Gyrus	brain
31	chr13:76618000-76618400	Enhancers	Brain Substantia Nigra	brain
32	chr13:76618200-76621000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:76618200-76623000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr13:76618400-76622800	Weak transcription	Fetal Lung	lung
35	chr13:76618400-76623000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:76618400-76623000	Weak transcription	Brain Angular Gyrus	brain
37	chr13:76618400-76623000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr13:76618400-76623000	Weak transcription	Brain Hippocampus Middle	brain
39	chr13:76618400-76623000	Weak transcription	Brain Substantia Nigra	brain
40	chr13:76621000-76623000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:76622400-76622600	Enhancers	HSMM	muscle
42	chr13:76622800-76623600	Enhancers	Fetal Lung	lung
43	chr13:76623000-76623200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr13:76623000-76623400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr13:76623000-76623400	Enhancers	Brain Cingulate Gyrus	brain
46	chr13:76623000-76623400	Enhancers	Brain Substantia Nigra	brain
47	chr13:76623000-76623400	Enhancers	HSMMtube	muscle
48	chr13:76623000-76623600	Enhancers	Brain Angular Gyrus	brain
49	chr13:76623000-76623800	Enhancers	Brain Hippocampus Middle	brain
50	chr13:76623000-76623800	Enhancers	Brain Inferior Temporal Lobe	brain

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