Variant report

Variant	nsv977352
Chromosome Location	chr13:64614796-64623223
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	chr13:64611241..64613586-chr13:64615130..64617717,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34483063	chr13:64615404-64615405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143545749	chr13:64615433-64615434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565586762	chr13:64615470-64615471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369928260	chr13:64615530-64615531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34242334	chr13:64615532-64615533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557578234	chr13:64615655-64615656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373813001	chr13:64615668-64615669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78827911	chr13:64615701-64615702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555430763	chr13:64615730-64615731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs269640	chr13:64615746-64615747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76022476	chr13:64615784-64615785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs269639	chr13:64615786-64615787	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181801875	chr13:64615787-64615788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540890200	chr13:64621448-64621449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559012057	chr13:64621454-64621455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140170203	chr13:64621475-64621476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544806240	chr13:64621492-64621493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79196813	chr13:64621494-64621495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542691147	chr13:64621498-64621499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143365256	chr13:64621522-64621523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542346350	chr13:64621525-64621526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374737944	chr13:64621574-64621575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560456792	chr13:64621598-64621599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187120235	chr13:64621623-64621624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552419511	chr13:64621652-64621653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192175043	chr13:64621671-64621672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143847860	chr13:64621678-64621679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146845097	chr13:64621705-64621706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567958002	chr13:64621729-64621730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148537233	chr13:64621745-64621746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547192785	chr13:64621769-64621770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370432229	chr13:64621798-64621799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565644433	chr13:64621806-64621807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539043126	chr13:64621813-64621814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369857601	chr13:64621824-64621825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540824188	chr13:64621885-64621886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577603357	chr13:64621927-64621928	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Multiple myeloma	17550852	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	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64615400-64615800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:64621400-64622000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links