Variant report

Variant	esv3350920
Chromosome Location	chr13:67275016-67275415
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: 31 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11617128	chr13:67275025-67275026	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376314328	chr13:67275050-67275051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs66810940	chr13:67275054-67275055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71415687	chr13:67275055-67275056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201331431	chr13:67275056-67275057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565650624	chr13:67275057-67275058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200162230	chr13:67275058-67275059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71449278	chr13:67275060-67275061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9529121	chr13:67275067-67275068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200572618	chr13:67275068-67275069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77854781	chr13:67275070-67275071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79926590	chr13:67275072-67275073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557825398	chr13:67275076-67275077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570969959	chr13:67275078-67275079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536752994	chr13:67275080-67275081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557107246	chr13:67275083-67275084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58852431	chr13:67275095-67275096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3042083	chr13:67275102-67275103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573929133	chr13:67275113-67275114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543283353	chr13:67275240-67275241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368213007	chr13:67275254-67275255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553436776	chr13:67275258-67275259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61961002	chr13:67275293-67275294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7988071	chr13:67275298-67275299	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs377746079	chr13:67275299-67275300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545031432	chr13:67275308-67275309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192396487	chr13:67275327-67275328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530997178	chr13:67275335-67275336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111432563	chr13:67275399-67275400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368870415	chr13:67275400-67275401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199590242	chr13:67275410-67275411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67274800-67276600	Weak transcription	Brain Substantia Nigra	brain
2	chr13:67275000-67275600	Enhancers	Brain Anterior Caudate	brain
3	chr13:67275000-67275600	Enhancers	Brain Hippocampus Middle	brain
4	chr13:67275000-67275800	Enhancers	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links