Variant report

Variant	nsv976233
Chromosome Location	chr13:38280432-38284114
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	chr13:38278229..38280553-chr13:38282544..38284081,2	K562	blood:
2	chr13:38278229..38280553-chr13:38282544..38284081,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574573393	chr13:38280434-38280435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566109064	chr13:38280442-38280443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540139879	chr13:38280468-38280469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559976031	chr13:38280513-38280514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576847632	chr13:38280514-38280515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368115650	chr13:38280538-38280539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186977610	chr13:38280560-38280561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75997900	chr13:38280575-38280576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114703261	chr13:38280582-38280583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548657635	chr13:38280596-38280597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117761449	chr13:38280631-38280632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371883007	chr13:38280715-38280716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7324324	chr13:38280734-38280735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191460137	chr13:38280748-38280749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113366226	chr13:38280769-38280770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75004318	chr13:38280770-38280771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377708587	chr13:38280790-38280791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113733487	chr13:38280796-38280797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375893594	chr13:38280829-38280830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558820549	chr13:38280837-38280838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145907555	chr13:38280846-38280847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138698329	chr13:38280869-38280870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76077984	chr13:38280885-38280886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144000308	chr13:38280965-38280966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533711147	chr13:38281002-38281003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369133670	chr13:38281017-38281018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553528155	chr13:38281092-38281093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186938900	chr13:38281118-38281119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191476409	chr13:38281124-38281125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576940387	chr13:38281138-38281139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541166259	chr13:38281139-38281140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201467565	chr13:38281178-38281179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552782457	chr13:38281181-38281182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556327729	chr13:38281250-38281251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544078811	chr13:38281359-38281360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147289424	chr13:38281403-38281404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114983517	chr13:38281446-38281447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562174179	chr13:38281467-38281468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527912568	chr13:38281483-38281484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541676261	chr13:38281496-38281497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182183319	chr13:38281517-38281518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140005623	chr13:38281547-38281548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77784095	chr13:38281553-38281554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577450534	chr13:38281595-38281596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566194807	chr13:38281655-38281656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531296897	chr13:38281660-38281661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376779704	chr13:38281758-38281759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1333352	chr13:38281790-38281791	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186509411	chr13:38281791-38281792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533626943	chr13:38281947-38281948	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
renal disease	20603712	CNVD
Tracheal agenesis	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38257400-38282000	Weak transcription	Ovary	ovary
2	chr13:38276400-38281600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr13:38276400-38281800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr13:38276600-38282400	Weak transcription	HUVEC	blood vessel
5	chr13:38276800-38289200	Weak transcription	NH-A	brain
6	chr13:38277000-38281400	Weak transcription	NHLF	lung
7	chr13:38277400-38288600	Weak transcription	Osteobl	bone
8	chr13:38280000-38282200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:38281400-38281600	Enhancers	NHLF	lung
10	chr13:38281600-38282200	Enhancers	Rectal Smooth Muscle	rectum
11	chr13:38281600-38282200	Weak transcription	NHLF	lung
12	chr13:38281800-38282000	Active TSS	Stomach Smooth Muscle	stomach
13	chr13:38281800-38282600	Enhancers	NHDF-Ad	bronchial
14	chr13:38282000-38282200	Enhancers	Ovary	ovary
15	chr13:38282000-38282200	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr13:38282200-38282400	Enhancers	NHLF	lung
17	chr13:38282200-38282600	Enhancers	Colon Smooth Muscle	Colon
18	chr13:38282200-38283200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr13:38282200-38284200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr13:38282200-38284600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:38282200-38289200	Weak transcription	Ovary	ovary
22	chr13:38282400-38284200	Weak transcription	NHLF	lung
23	chr13:38282400-38284800	Enhancers	HUVEC	blood vessel
24	chr13:38282600-38283200	Weak transcription	NHDF-Ad	bronchial
25	chr13:38283200-38283400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr13:38283200-38283400	Enhancers	Rectal Smooth Muscle	rectum
27	chr13:38283200-38283800	Enhancers	NHDF-Ad	bronchial
28	chr13:38283200-38284000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr13:38283400-38283800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:38283400-38284200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr13:38283800-38289200	Weak transcription	NHDF-Ad	bronchial
32	chr13:38284000-38288600	Weak transcription	Muscle Satellite Cultured Cells	--

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