Variant report

Variant	nsv983685
Chromosome Location	chr13:51038887-51048899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:51035921..51038839-chr13:51039096..51041176,3	K562	blood:
2	chr13:51042795..51044976-chr13:51046435..51049054,2	K562	blood:
3	chr13:51040236..51041817-chr13:51041887..51044596,2	MCF-7	breast:
4	chr13:50664616..50667057-chr13:51038021..51040614,2	K562	blood:
5	chr13:51040236..51041817-chr13:51041887..51044596,2	MCF-7	breast:
6	chr13:51042795..51044976-chr13:51046435..51049054,2	K562	blood:

Extended variants
information (count: 336 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9562975	chr13:51038887-51038888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188586632	chr13:51038933-51038934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557074211	chr13:51038942-51038943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560571940	chr13:51038945-51038946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78690712	chr13:51039020-51039021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544512422	chr13:51039033-51039034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562794612	chr13:51039049-51039050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149431492	chr13:51039059-51039060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576877798	chr13:51039099-51039100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551989607	chr13:51039119-51039120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566934369	chr13:51039208-51039209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527812702	chr13:51039266-51039267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549472194	chr13:51039267-51039268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192974852	chr13:51039279-51039280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538203762	chr13:51039330-51039331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201654529	chr13:51039357-51039358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539573802	chr13:51039372-51039373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75092130	chr13:51039388-51039389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17366676	chr13:51039421-51039422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs184680440	chr13:51039426-51039427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73502108	chr13:51039433-51039434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs115585676	chr13:51039497-51039498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17074374	chr13:51039527-51039528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs201774	chr13:51039567-51039568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs9562976	chr13:51039576-51039577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575847135	chr13:51039628-51039629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74320182	chr13:51039734-51039735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12431131	chr13:51039751-51039752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12428189	chr13:51039933-51039934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545354248	chr13:51040024-51040025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74076622	chr13:51040060-51040061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs527849316	chr13:51040116-51040117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549510999	chr13:51040122-51040123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189513006	chr13:51040143-51040144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7324132	chr13:51040186-51040187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs17074379	chr13:51040207-51040208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571536203	chr13:51040234-51040235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180686342	chr13:51040241-51040242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547338825	chr13:51040260-51040261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565875706	chr13:51040276-51040277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148563948	chr13:51040292-51040293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529291239	chr13:51040360-51040361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554339522	chr13:51040524-51040525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367695323	chr13:51040555-51040556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183649039	chr13:51040556-51040557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536730010	chr13:51040579-51040580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558549138	chr13:51040597-51040598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111234210	chr13:51040660-51040661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545701835	chr13:51040729-51040730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530808408	chr13:51040732-51040733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51030600-51050000	Weak transcription	Fetal Lung	lung
2	chr13:51030800-51040600	Weak transcription	Fetal Stomach	stomach
3	chr13:51033800-51041200	Weak transcription	Right Ventricle	heart
4	chr13:51034800-51040600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:51035000-51042400	Weak transcription	K562	blood
6	chr13:51036000-51041400	Weak transcription	Fetal Kidney	kidney
7	chr13:51039000-51039400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:51039200-51039400	Enhancers	Brain Germinal Matrix	brain
9	chr13:51040600-51040800	Enhancers	Fetal Stomach	stomach
10	chr13:51040600-51041200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:51040600-51042200	Enhancers	Fetal Muscle Leg	muscle
12	chr13:51040800-51041200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:51040800-51041400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr13:51040800-51041600	Weak transcription	Fetal Stomach	stomach
15	chr13:51041000-51042000	Enhancers	Brain Germinal Matrix	brain
16	chr13:51041200-51041400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr13:51041200-51041600	Enhancers	Right Ventricle	heart
18	chr13:51041200-51041600	Bivalent Enhancer	NHDF-Ad	bronchial
19	chr13:51041200-51041800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:51041200-51042000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:51041200-51043800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:51041200-51043800	Enhancers	Fetal Heart	heart
23	chr13:51041400-51041600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr13:51041400-51041800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:51041400-51041800	Enhancers	Psoas Muscle	Psoas
26	chr13:51041400-51042000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr13:51041400-51043000	Enhancers	Fetal Kidney	kidney
28	chr13:51041600-51041800	Enhancers	Fetal Stomach	stomach
29	chr13:51041600-51042000	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr13:51041800-51042200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:51041800-51060600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:51042000-51042200	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr13:51042000-51042200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr13:51042200-51042400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr13:51042400-51043800	Enhancers	K562	blood
36	chr13:51042600-51043600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr13:51043000-51043400	Enhancers	Brain Cingulate Gyrus	brain
38	chr13:51043000-51043800	Enhancers	Brain Hippocampus Middle	brain
39	chr13:51043000-51043800	Enhancers	HUVEC	blood vessel
40	chr13:51043200-51043600	Enhancers	Adipose Nuclei	Adipose
41	chr13:51043200-51044000	Enhancers	Brain Substantia Nigra	brain
42	chr13:51043400-51044400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr13:51043600-51044000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr13:51043800-51044000	Weak transcription	Fetal Heart	heart
45	chr13:51044400-51044600	Enhancers	Brain Cingulate Gyrus	brain
46	chr13:51048000-51048800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr13:51048000-51049000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr13:51048200-51048600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:51048200-51048600	Weak transcription	Right Ventricle	heart
50	chr13:51048200-51048800	Enhancers	NHDF-Ad	bronchial

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