Variant report

Variant	nsv553141
Chromosome Location	chr11:3674992-3675788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538244016	chr11:3674992-3674993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370171689	chr11:3675025-3675026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200316536	chr11:3675029-3675030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575626398	chr11:3675031-3675032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546092977	chr11:3675039-3675040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558013059	chr11:3675048-3675049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113869766	chr11:3675055-3675056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111629952	chr11:3675062-3675063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112944104	chr11:3675070-3675071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76106087	chr11:3675092-3675093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148871422	chr11:3675126-3675127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141959607	chr11:3675130-3675131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150476693	chr11:3675155-3675156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113080171	chr11:3675189-3675190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56321886	chr11:3675272-3675273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369475003	chr11:3675283-3675284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539992261	chr11:3675284-3675285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561818405	chr11:3675291-3675292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528933718	chr11:3675307-3675308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61878547	chr11:3675315-3675316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562106662	chr11:3675337-3675338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112372419	chr11:3675344-3675345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111668121	chr11:3675381-3675382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562627092	chr11:3675403-3675404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61878548	chr11:3675419-3675420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111961231	chr11:3675426-3675427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139493758	chr11:3675482-3675483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56316924	chr11:3675494-3675495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373308179	chr11:3675533-3675534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371830950	chr11:3675556-3675557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533465582	chr11:3675596-3675597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372852564	chr11:3675598-3675599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369737988	chr11:3675608-3675609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376159051	chr11:3675633-3675634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61878549	chr11:3675659-3675660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113780038	chr11:3675671-3675672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370974744	chr11:3675722-3675723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149222587	chr11:3675734-3675735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368182697	chr11:3675741-3675742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369835613	chr11:3675745-3675746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111645626	chr11:3675781-3675782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370762777	chr11:3675785-3675786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551634938	chr11:3675788-3675789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Autism	22495311	CNVD
Lung cancer	18438408	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3669200-3680200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr11:3669200-3681400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr11:3671000-3686800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:3673000-3687200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:3674600-3675000	Enhancers	K562	blood
6	chr11:3675200-3675400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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