Variant report

Variant	nsv519705
Chromosome Location	chr11:103978540-103981833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:103968351..103970257-chr11:103981354..103982910,2	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11226159	chr11:103978540-103978541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555638817	chr11:103978576-103978577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12224685	chr11:103978583-103978584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575620276	chr11:103978640-103978641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144858193	chr11:103978665-103978666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554572845	chr11:103978672-103978673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574379758	chr11:103978753-103978754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540210807	chr11:103978805-103978806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547833423	chr11:103978879-103978880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201160067	chr11:103978964-103978965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202124496	chr11:103978965-103978966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201572380	chr11:103978966-103978967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545203749	chr11:103978987-103978988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374711080	chr11:103978992-103978993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564414150	chr11:103978993-103978994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11226160	chr11:103979011-103979012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546202423	chr11:103979040-103979041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12225070	chr11:103979049-103979050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12225071	chr11:103979056-103979057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562680499	chr11:103979087-103979088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560521820	chr11:103979088-103979089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397848917	chr11:103979096-103979097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12224740	chr11:103979115-103979116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568362627	chr11:103979187-103979188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12226384	chr11:103979241-103979242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566973087	chr11:103979253-103979254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185556372	chr11:103979299-103979300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558802250	chr11:103979313-103979314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568932463	chr11:103979314-103979315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538023763	chr11:103979345-103979346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187224582	chr11:103979351-103979352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61892484	chr11:103979357-103979358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574668099	chr11:103979374-103979375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377452408	chr11:103979387-103979388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12225395	chr11:103979418-103979419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539040879	chr11:103979426-103979427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192155108	chr11:103979444-103979445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146506111	chr11:103979468-103979469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545462823	chr11:103979475-103979476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183878513	chr11:103979544-103979545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12223758	chr11:103979569-103979570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs113312017	chr11:103979576-103979577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555502387	chr11:103979639-103979640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561472899	chr11:103979695-103979696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138662383	chr11:103979696-103979697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188650435	chr11:103979705-103979706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs361290	chr11:103979738-103979739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs111277704	chr11:103979766-103979767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532676591	chr11:103979767-103979768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545780530	chr11:103979768-103979769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:103971000-103981200	Weak transcription	Ovary	ovary
2	chr11:103976200-103992800	Weak transcription	Aorta	Aorta
3	chr11:103977400-103981200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:103977400-103981200	Weak transcription	Fetal Heart	heart
5	chr11:103977600-103980400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:103978200-103981400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:103980400-103980600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:103980400-103981200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr11:103980600-103981400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:103981200-103981600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:103981200-103981600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr11:103981200-103981600	Active TSS	Ovary	ovary
13	chr11:103981400-103981600	Enhancers	Gastric	stomach
14	chr11:103981400-103982200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:103981400-103982200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:103981600-103981800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:103981600-103982000	Weak transcription	Ovary	ovary
18	chr11:103981600-103982400	Enhancers	Muscle Satellite Cultured Cells	--

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