Variant report

Variant	nsv1050904
Chromosome Location	chr13:67266023-67344500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
2	chr13:67321108..67323350-chr13:67324882..67327027,2	MCF-7	breast:
3	chr13:67321108..67323350-chr13:67324882..67327027,2	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: 1658 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1658 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541070429	chr13:67266068-67266069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142820751	chr13:67266241-67266242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577629112	chr13:67266264-67266265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9571628	chr13:67266272-67266273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186134220	chr13:67266297-67266298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9571629	chr13:67266298-67266299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562736840	chr13:67266377-67266378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75344396	chr13:67266420-67266421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559666533	chr13:67266445-67266446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542166457	chr13:67266469-67266470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373023939	chr13:67266480-67266481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528465471	chr13:67266491-67266492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560423854	chr13:67266520-67266521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551709959	chr13:67266587-67266588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189417718	chr13:67266618-67266619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181381013	chr13:67266627-67266628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557490838	chr13:67266684-67266685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372342349	chr13:67266727-67266728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9564332	chr13:67266764-67266765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150632790	chr13:67266770-67266771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140801741	chr13:67266856-67266857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111735570	chr13:67266882-67266883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576643604	chr13:67266905-67266906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566021830	chr13:67266955-67266956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552525604	chr13:67266976-67266977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112693282	chr13:67266992-67266993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557690839	chr13:67267010-67267011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577589865	chr13:67267012-67267013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113412293	chr13:67267077-67267078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73200907	chr13:67267101-67267102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112413944	chr13:67267136-67267137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116678943	chr13:67267202-67267203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373076556	chr13:67267251-67267252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542854087	chr13:67267252-67267253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559529055	chr13:67267284-67267285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191136352	chr13:67267319-67267320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1547118	chr13:67267320-67267321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144752065	chr13:67267499-67267500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147928822	chr13:67267560-67267561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368906066	chr13:67267587-67267588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550080364	chr13:67267600-67267601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183438096	chr13:67267626-67267627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185856122	chr13:67267644-67267645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141792725	chr13:67267685-67267686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1547119	chr13:67267697-67267698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559086366	chr13:67267727-67267728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534891241	chr13:67267810-67267811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551404478	chr13:67267899-67267900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571207380	chr13:67267901-67267902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138652616	chr13:67267928-67267929	Weak transcription Enhancers	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:122 , 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	chr13:67264400-67268200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr13:67264400-67268200	Weak transcription	Fetal Brain Female	brain
5	chr13:67267800-67268000	Enhancers	Brain Hippocampus Middle	brain
6	chr13:67267800-67268200	Enhancers	Brain Anterior Caudate	brain
7	chr13:67267800-67268400	Enhancers	Fetal Heart	heart
8	chr13:67268000-67268400	Enhancers	Adipose Nuclei	Adipose
9	chr13:67268000-67268600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:67268000-67274200	Weak transcription	Brain Hippocampus Middle	brain
11	chr13:67268200-67268600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:67268200-67268600	Enhancers	Fetal Brain Female	brain
13	chr13:67268600-67274200	Weak transcription	Fetal Brain Female	brain
14	chr13:67273400-67274000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:67273600-67274200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr13:67274200-67274400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr13:67274200-67274400	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr13:67274200-67274400	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr13:67274200-67274400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr13:67274200-67274400	Enhancers	Fetal Brain Female	brain
21	chr13:67274200-67274600	Enhancers	Fetal Lung	lung
22	chr13:67274200-67274800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:67274200-67274800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:67274200-67274800	Active TSS	Brain Anterior Caudate	brain
25	chr13:67274200-67274800	Active TSS	Brain Substantia Nigra	brain
26	chr13:67274200-67274800	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr13:67274200-67274800	Active TSS	Stomach Smooth Muscle	stomach
28	chr13:67274400-67274600	Active TSS	Brain Hippocampus Middle	brain
29	chr13:67274400-67274600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr13:67274400-67274800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr13:67274400-67274800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr13:67274400-67274800	Active TSS	Brain Cingulate Gyrus	brain
33	chr13:67274400-67275000	Enhancers	NH-A	brain
34	chr13:67274600-67274800	Enhancers	Brain Angular Gyrus	brain
35	chr13:67274600-67275000	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr13:67274800-67275000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr13:67274800-67275000	Weak transcription	Brain Anterior Caudate	brain
38	chr13:67274800-67275000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr13:67274800-67276600	Weak transcription	Brain Substantia Nigra	brain
40	chr13:67275000-67275600	Enhancers	Brain Anterior Caudate	brain
41	chr13:67275000-67275600	Enhancers	Brain Hippocampus Middle	brain
42	chr13:67275000-67275800	Enhancers	Brain Cingulate Gyrus	brain
43	chr13:67275600-67286000	Weak transcription	Brain Hippocampus Middle	brain
44	chr13:67275800-67280000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr13:67276600-67276800	Enhancers	Brain Substantia Nigra	brain
46	chr13:67276800-67277200	Weak transcription	Brain Substantia Nigra	brain
47	chr13:67277200-67277600	Enhancers	Brain Substantia Nigra	brain
48	chr13:67280000-67280200	Enhancers	Brain Cingulate Gyrus	brain
49	chr13:67280200-67280600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr13:67281400-67282000	Enhancers	Pancreatic Islets	Pancreatic Islet

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