Variant report

Variant	nsv825717
Chromosome Location	chr11:3649638-3650306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572525578	chr11:3649667-3649668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575791411	chr11:3649670-3649671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550720108	chr11:3649671-3649672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61878490	chr11:3649698-3649699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191329573	chr11:3649709-3649710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386749914	chr11:3649730-3649731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145241978	chr11:3649731-3649732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113034965	chr11:3649794-3649795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529857080	chr11:3649801-3649802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543870216	chr11:3649821-3649822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547967966	chr11:3649861-3649862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75150984	chr11:3649910-3649911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548541973	chr11:3649941-3649942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201378275	chr11:3649983-3649984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140106983	chr11:3649984-3649985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201977234	chr11:3649996-3649997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530516335	chr11:3650020-3650021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144878722	chr11:3650043-3650044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373708147	chr11:3650077-3650078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7108612	chr11:3650086-3650087	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548372842	chr11:3650090-3650091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534274745	chr11:3650197-3650198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568184546	chr11:3650225-3650226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74049409	chr11:3650232-3650233	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs373892053	chr11:3650238-3650239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537173550	chr11:3650264-3650265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140849669	chr11:3650303-3650304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3648200-3656200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:3648600-3649800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:3648600-3649800	Weak transcription	NHDF-Ad	bronchial
4	chr11:3648600-3650000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:3648600-3650000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:3648800-3662800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:3649800-3650200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:3650000-3650200	Enhancers	NHDF-Ad	bronchial
9	chr11:3650000-3650400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:3650000-3650400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:3650200-3658400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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