Variant report

Variant	nsv515848
Chromosome Location	chr11:24783183-24793715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2716530	chr11:24783183-24783184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570392882	chr11:24788812-24788813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572812704	chr11:24788834-24788835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552622896	chr11:24788859-24788860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569406091	chr11:24788881-24788882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368451674	chr11:24788883-24788884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539900601	chr11:24788884-24788885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372845112	chr11:24788904-24788905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187538367	chr11:24788905-24788906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7934614	chr11:24788929-24788930	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76975805	chr11:24788983-24788984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568219339	chr11:24789007-24789008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145818930	chr11:24789011-24789012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538239690	chr11:24789029-24789030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553743114	chr11:24789034-24789035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563948042	chr11:24789047-24789048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2631409	chr11:24789050-24789051	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539688052	chr11:24789057-24789058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556197032	chr11:24789063-24789064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576143840	chr11:24789067-24789068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542048093	chr11:24789101-24789102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12287149	chr11:24789118-24789119	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568773145	chr11:24789157-24789158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556253913	chr11:24789171-24789172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191601961	chr11:24789193-24789194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535648476	chr11:24789268-24789269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77190564	chr11:24789288-24789289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12280401	chr11:24789316-24789317	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs182644164	chr11:24789379-24789380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12280356	chr11:24789395-24789396	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531745193	chr11:24789400-24789401	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24782800-24783200	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:24788800-24789400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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