Variant report

Variant	nsv591289
Chromosome Location	chr3:111246000-111251208
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 254 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6766795	chr3:111246000-111246001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113825896	chr3:111246009-111246010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573120590	chr3:111246037-111246038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112954598	chr3:111246048-111246049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149213437	chr3:111246056-111246057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562117744	chr3:111246110-111246111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531066946	chr3:111246136-111246137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114169541	chr3:111246169-111246170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112376493	chr3:111246205-111246206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564153121	chr3:111246284-111246285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533237858	chr3:111246310-111246311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546542355	chr3:111246314-111246315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187470143	chr3:111246319-111246320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1846179	chr3:111246365-111246366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs528809394	chr3:111246374-111246375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548612041	chr3:111246387-111246388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568611386	chr3:111246408-111246409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537580078	chr3:111246410-111246411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528215120	chr3:111246413-111246414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570923558	chr3:111246442-111246443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192961694	chr3:111246443-111246444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374540520	chr3:111246463-111246464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1846178	chr3:111246468-111246469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185366111	chr3:111246506-111246507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542235612	chr3:111246520-111246521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555844613	chr3:111246579-111246580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189430429	chr3:111246587-111246588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192930457	chr3:111246593-111246594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564617788	chr3:111246615-111246616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143403164	chr3:111246616-111246617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540422009	chr3:111246632-111246633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183465469	chr3:111246634-111246635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188326256	chr3:111246653-111246654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148292347	chr3:111246704-111246705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530217282	chr3:111246739-111246740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540373046	chr3:111246776-111246777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548879547	chr3:111246791-111246792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568549277	chr3:111246812-111246813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181837149	chr3:111246899-111246900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12330603	chr3:111246935-111246936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571322588	chr3:111246975-111246976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539605707	chr3:111247117-111247118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79391334	chr3:111247152-111247153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553572217	chr3:111247199-111247200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376116793	chr3:111247202-111247203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530936421	chr3:111247205-111247206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150765927	chr3:111247208-111247209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536182679	chr3:111247213-111247214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186397762	chr3:111247231-111247232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575673616	chr3:111247236-111247237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111236400-111249600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:111243600-111249000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:111245600-111246000	Enhancers	Fetal Thymus	thymus
4	chr3:111249000-111250800	Enhancers	Primary B cells from peripheral blood	blood
5	chr3:111249600-111249800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:111249800-111250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:111250000-111250800	Enhancers	Osteobl	bone
8	chr3:111250000-111251000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:111250200-111250400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:111250200-111250400	Enhancers	HSMMtube	muscle
11	chr3:111250200-111250600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:111250200-111250800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:111250400-111252400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:111250400-111253200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:111250600-111253000	Weak transcription	HSMMtube	muscle
16	chr3:111250600-111253200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:111250800-111251000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:111250800-111253000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:111250800-111253400	Weak transcription	Osteobl	bone
20	chr3:111250800-111253600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr3:111251000-111253200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:111251000-111253200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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