Variant report

Variant	nsv971983
Chromosome Location	chr11:5862463-5862963
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545284578	chr11:5862475-5862476	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs180749416	chr11:5862479-5862480	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs527760129	chr11:5862507-5862508	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs369411353	chr11:5862531-5862532	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs10742809	chr11:5862532-5862533	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs199724169	chr11:5862566-5862567	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs369185989	chr11:5862588-5862589	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs200669717	chr11:5862607-5862608	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs186181055	chr11:5862608-5862609	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs117588627	chr11:5862612-5862613	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs191900000	chr11:5862618-5862619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs7943698	chr11:5862619-5862620	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs377318267	chr11:5862621-5862622	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs370635171	chr11:5862633-5862634	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs544618978	chr11:5862649-5862650	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs4357719	chr11:5862653-5862654	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs536337832	chr11:5862667-5862668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs533328440	chr11:5862703-5862704	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs554722938	chr11:5862709-5862710	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs373651554	chr11:5862714-5862715	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs200675437	chr11:5862717-5862718	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs372198368	chr11:5862729-5862730	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs10838719	chr11:5862731-5862732	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs368477824	chr11:5862754-5862755	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs61737712	chr11:5862758-5862759	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs267603030	chr11:5862777-5862778	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs4362172	chr11:5862780-5862781	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs371743507	chr11:5862783-5862784	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs200729945	chr11:5862797-5862798	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs370082903	chr11:5862807-5862808	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs373050179	chr11:5862829-5862830	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs369883736	chr11:5862830-5862831	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs368058371	chr11:5862835-5862836	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs145073549	chr11:5862836-5862837	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs267603031	chr11:5862844-5862845	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs4592451	chr11:5862845-5862846	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs201073329	chr11:5862869-5862870	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs183526065	chr11:5862872-5862873	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs369998923	chr11:5862880-5862881	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs151316251	chr11:5862894-5862895	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs202167540	chr11:5862897-5862898	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs139412237	chr11:5862898-5862899	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs368548347	chr11:5862908-5862909	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs371265942	chr11:5862928-5862929	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs4495918	chr11:5862937-5862938	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs368112349	chr11:5862962-5862963	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Type 2 diabetes	21526130	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5862200-5863000	Active TSS	Brain Substantia Nigra	brain

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