Variant report

Variant	nsv983707
Chromosome Location	chr13:38456859-38460148
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	chr13:38459649..38463238-chr13:38465046..38467121,3	K562	blood:
2	chr13:38457165..38458884-chr13:38460417..38462936,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562842970	chr13:38456864-38456865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531803084	chr13:38456890-38456891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548388852	chr13:38456927-38456928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78700296	chr13:38456928-38456929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142474749	chr13:38456942-38456943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368544575	chr13:38456967-38456968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566503409	chr13:38456997-38456998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144715823	chr13:38457056-38457057	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147824694	chr13:38457057-38457058	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79199919	chr13:38457092-38457093	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568882114	chr13:38457155-38457156	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537908602	chr13:38457193-38457194	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554841537	chr13:38457215-38457216	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373972063	chr13:38457266-38457267	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10600412	chr13:38457317-38457318	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143277267	chr13:38457335-38457336	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78567045	chr13:38457336-38457337	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201395172	chr13:38457337-38457338	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534120026	chr13:38457338-38457339	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572359606	chr13:38457341-38457342	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3028113	chr13:38457342-38457343	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532184833	chr13:38457343-38457344	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370317668	chr13:38457360-38457361	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548367140	chr13:38457403-38457404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112857916	chr13:38457502-38457503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553789474	chr13:38457526-38457527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577018666	chr13:38457559-38457560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140253876	chr13:38457645-38457646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2323638	chr13:38457666-38457667	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs576494612	chr13:38457680-38457681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77827222	chr13:38457682-38457683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150380375	chr13:38457696-38457697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1077026	chr13:38457720-38457721	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs12875351	chr13:38457782-38457783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1077025	chr13:38457786-38457787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542474118	chr13:38457823-38457824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138071506	chr13:38457827-38457828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs207473693	chr13:38457834-38457835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533649656	chr13:38457842-38457843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551903439	chr13:38457860-38457861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113541636	chr13:38457905-38457906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569404171	chr13:38457942-38457943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551229565	chr13:38457959-38457960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372076320	chr13:38457989-38457990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74049239	chr13:38458013-38458014	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551885484	chr13:38458065-38458066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77389049	chr13:38458069-38458070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568119436	chr13:38458095-38458096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7329061	chr13:38458104-38458105	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs373757347	chr13:38458109-38458110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38444800-38462200	Weak transcription	Pancreas	Pancrea
2	chr13:38452800-38458000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:38453200-38458400	Weak transcription	Osteobl	bone
4	chr13:38456600-38457000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:38457000-38457200	Enhancers	HSMMtube	muscle
6	chr13:38457000-38457400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:38457400-38457800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:38457800-38458200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:38457800-38458600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:38458000-38458400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:38458200-38458800	Enhancers	HSMMtube	muscle
12	chr13:38458200-38459000	Enhancers	NH-A	brain
13	chr13:38458200-38459200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:38458400-38458600	Flanking Active TSS	Osteobl	bone
15	chr13:38458400-38458800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:38458600-38458800	Enhancers	Osteobl	bone
17	chr13:38458600-38459200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:38458800-38459000	Flanking Active TSS	Osteobl	bone
19	chr13:38458800-38459400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:38459000-38459200	Enhancers	Osteobl	bone
21	chr13:38459200-38459400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:38459200-38463000	Weak transcription	Osteobl	bone
23	chr13:38459400-38463400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:38460000-38461400	Enhancers	Duodenum Mucosa	Duodenum

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