Variant report

Variant	nsv983718
Chromosome Location	chr13:67268359-67274299
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	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:

Extended variants
information (count: 197 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571860095	chr13:67268359-67268360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573371539	chr13:67268365-67268366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189982054	chr13:67268399-67268400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565465002	chr13:67268406-67268407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558505877	chr13:67268413-67268414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7988876	chr13:67268466-67268467	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544661056	chr13:67268471-67268472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149025638	chr13:67268528-67268529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530172284	chr13:67268771-67268772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112206030	chr13:67268788-67268789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143629182	chr13:67268819-67268820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201089934	chr13:67268849-67268850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113840343	chr13:67268894-67268895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559467095	chr13:67268913-67268914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182347702	chr13:67268955-67268956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528309617	chr13:67269018-67269019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7992981	chr13:67269029-67269030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs367904882	chr13:67269037-67269038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571491191	chr13:67269046-67269047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530723522	chr13:67269108-67269109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550112912	chr13:67269109-67269110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373045757	chr13:67269155-67269156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566943814	chr13:67269217-67269218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542522896	chr13:67269225-67269226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377476334	chr13:67269227-67269228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552825352	chr13:67269256-67269257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568718185	chr13:67269275-67269276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556507874	chr13:67269286-67269287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538907154	chr13:67269300-67269301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559196933	chr13:67269327-67269328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575810225	chr13:67269330-67269331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544927053	chr13:67269351-67269352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113536283	chr13:67269383-67269384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199934619	chr13:67269397-67269398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377505469	chr13:67269402-67269403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35376800	chr13:67269422-67269423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4591019	chr13:67269475-67269476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561495678	chr13:67269510-67269511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7335600	chr13:67269546-67269547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs36010159	chr13:67269601-67269602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2181536	chr13:67269709-67269710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528286246	chr13:67269716-67269717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544834922	chr13:67269749-67269750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11148712	chr13:67269765-67269766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs530686353	chr13:67269773-67269774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550475104	chr13:67269786-67269787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572483199	chr13:67269790-67269791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2146742	chr13:67269799-67269800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs529665491	chr13:67269802-67269803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12583568	chr13:67269847-67269848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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

Chromatin state (count:23 , 50 per page) page: 1

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	chr13:67267800-67268400	Enhancers	Fetal Heart	heart
4	chr13:67268000-67268400	Enhancers	Adipose Nuclei	Adipose
5	chr13:67268000-67268600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:67268000-67274200	Weak transcription	Brain Hippocampus Middle	brain
7	chr13:67268200-67268600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:67268200-67268600	Enhancers	Fetal Brain Female	brain
9	chr13:67268600-67274200	Weak transcription	Fetal Brain Female	brain
10	chr13:67273400-67274000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr13:67273600-67274200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr13:67274200-67274400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr13:67274200-67274400	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr13:67274200-67274400	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr13:67274200-67274400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr13:67274200-67274400	Enhancers	Fetal Brain Female	brain
17	chr13:67274200-67274600	Enhancers	Fetal Lung	lung
18	chr13:67274200-67274800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:67274200-67274800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:67274200-67274800	Active TSS	Brain Anterior Caudate	brain
21	chr13:67274200-67274800	Active TSS	Brain Substantia Nigra	brain
22	chr13:67274200-67274800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr13:67274200-67274800	Active TSS	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links