Variant report

Variant	nsv900401
Chromosome Location	chr13:67269546-67362138
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:67321108..67323350-chr13:67324882..67327027,2	MCF-7	breast:
2	chr13:67321108..67323350-chr13:67324882..67327027,2	MCF-7	breast:
3	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
4	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:
5	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
6	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:

Extended variants
information (count: 2210 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2210 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7335600	chr13:67269546-67269547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs36010159	chr13:67269601-67269602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2181536	chr13:67269709-67269710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528286246	chr13:67269716-67269717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544834922	chr13:67269749-67269750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11148712	chr13:67269765-67269766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs530686353	chr13:67269773-67269774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550475104	chr13:67269786-67269787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572483199	chr13:67269790-67269791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2146742	chr13:67269799-67269800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529665491	chr13:67269802-67269803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12583568	chr13:67269847-67269848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138543345	chr13:67269894-67269895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538739175	chr13:67269895-67269896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572710413	chr13:67269943-67269944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558839332	chr13:67270096-67270097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7336476	chr13:67270113-67270114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531788541	chr13:67270171-67270172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538506904	chr13:67270198-67270199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187776969	chr13:67270211-67270212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537027485	chr13:67270227-67270228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574865023	chr13:67270246-67270247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368172058	chr13:67270249-67270250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140276162	chr13:67270296-67270297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192525408	chr13:67270299-67270300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577220542	chr13:67270352-67270353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372364279	chr13:67270357-67270358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs137981862	chr13:67270435-67270436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141736777	chr13:67270439-67270440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544078032	chr13:67270466-67270467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543566956	chr13:67270505-67270506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560892530	chr13:67270508-67270509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576654788	chr13:67270512-67270513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529629207	chr13:67270552-67270553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74771137	chr13:67270592-67270593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560099976	chr13:67270620-67270621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138656200	chr13:67270638-67270639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368519376	chr13:67270667-67270668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183012156	chr13:67270668-67270669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113237367	chr13:67270676-67270677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538471154	chr13:67270691-67270692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188850050	chr13:67270738-67270739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112588433	chr13:67270805-67270806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112908536	chr13:67270808-67270809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534509506	chr13:67270856-67270857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112854363	chr13:67270893-67270894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141108239	chr13:67270916-67270917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34598874	chr13:67270926-67270927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527398673	chr13:67270935-67270936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11616696	chr13:67270970-67270971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67262000-67274200	Weak transcription	Brain Substantia Nigra	brain
2	chr13:67263600-67274200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:67268000-67274200	Weak transcription	Brain Hippocampus Middle	brain
4	chr13:67268600-67274200	Weak transcription	Fetal Brain Female	brain
5	chr13:67273400-67274000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr13:67273600-67274200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr13:67274200-67274400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr13:67274200-67274400	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr13:67274200-67274400	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr13:67274200-67274400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr13:67274200-67274400	Enhancers	Fetal Brain Female	brain
12	chr13:67274200-67274600	Enhancers	Fetal Lung	lung
13	chr13:67274200-67274800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:67274200-67274800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:67274200-67274800	Active TSS	Brain Anterior Caudate	brain
16	chr13:67274200-67274800	Active TSS	Brain Substantia Nigra	brain
17	chr13:67274200-67274800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr13:67274200-67274800	Active TSS	Stomach Smooth Muscle	stomach
19	chr13:67274400-67274600	Active TSS	Brain Hippocampus Middle	brain
20	chr13:67274400-67274600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr13:67274400-67274800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr13:67274400-67274800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr13:67274400-67274800	Active TSS	Brain Cingulate Gyrus	brain
24	chr13:67274400-67275000	Enhancers	NH-A	brain
25	chr13:67274600-67274800	Enhancers	Brain Angular Gyrus	brain
26	chr13:67274600-67275000	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr13:67274800-67275000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr13:67274800-67275000	Weak transcription	Brain Anterior Caudate	brain
29	chr13:67274800-67275000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr13:67274800-67276600	Weak transcription	Brain Substantia Nigra	brain
31	chr13:67275000-67275600	Enhancers	Brain Anterior Caudate	brain
32	chr13:67275000-67275600	Enhancers	Brain Hippocampus Middle	brain
33	chr13:67275000-67275800	Enhancers	Brain Cingulate Gyrus	brain
34	chr13:67275600-67286000	Weak transcription	Brain Hippocampus Middle	brain
35	chr13:67275800-67280000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr13:67276600-67276800	Enhancers	Brain Substantia Nigra	brain
37	chr13:67276800-67277200	Weak transcription	Brain Substantia Nigra	brain
38	chr13:67277200-67277600	Enhancers	Brain Substantia Nigra	brain
39	chr13:67280000-67280200	Enhancers	Brain Cingulate Gyrus	brain
40	chr13:67280200-67280600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr13:67281400-67282000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr13:67282000-67289000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr13:67286000-67286200	Enhancers	Brain Hippocampus Middle	brain
44	chr13:67289000-67290800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr13:67290400-67291000	Enhancers	A549	lung
46	chr13:67290400-67291200	Enhancers	Liver	Liver
47	chr13:67293600-67294200	Enhancers	Primary B cells from peripheral blood	blood
48	chr13:67296000-67296200	Enhancers	Brain Cingulate Gyrus	brain
49	chr13:67296000-67296400	Enhancers	Brain Angular Gyrus	brain
50	chr13:67296000-67296600	Enhancers	Brain Substantia Nigra	brain

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