Variant report

Variant	esv3382366
Chromosome Location	chr13:70440351-70444949
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	chr13:70444676..70447495-chr17:57919486..57921075,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559792516	chr13:70440353-70440354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367933242	chr13:70440406-70440407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528542182	chr13:70440411-70440412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116268536	chr13:70440448-70440449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34618345	chr13:70440509-70440510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74092621	chr13:70440546-70440547	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs150712429	chr13:70440559-70440560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186712711	chr13:70440594-70440595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149901873	chr13:70440898-70440899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35987280	chr13:70440899-70440900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537633138	chr13:70440931-70440932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185665830	chr13:70440964-70440965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190584223	chr13:70440970-70440971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146500842	chr13:70440971-70440972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73508445	chr13:70441064-70441065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201850334	chr13:70441075-70441076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72522951	chr13:70441077-70441078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34069392	chr13:70441078-70441079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573166886	chr13:70441079-70441080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545104673	chr13:70441081-70441082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565368597	chr13:70441092-70441093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575692784	chr13:70441120-70441121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140961503	chr13:70441149-70441150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560760551	chr13:70441228-70441229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568190897	chr13:70441252-70441253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs8002832	chr13:70441255-70441256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561110368	chr13:70441270-70441271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560217545	chr13:70441321-70441322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192989310	chr13:70441330-70441331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112827339	chr13:70441342-70441343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7981986	chr13:70441344-70441345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568931407	chr13:70441347-70441348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555676035	chr13:70441368-70441369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573985461	chr13:70441394-70441395	Enhancers	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
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
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70440000-70440600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr13:70440800-70441400	Enhancers	Liver	Liver

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