Variant report

Variant	nsv983217
Chromosome Location	chr11:24394261-24401348
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374377625	chr11:24395007-24395008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs202164049	chr11:24395008-24395009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192667140	chr11:24395023-24395024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184476452	chr11:24395109-24395110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189185468	chr11:24395118-24395119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370928498	chr11:24395127-24395128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181809636	chr11:24395129-24395130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184745088	chr11:24395176-24395177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552654892	chr11:24396683-24396684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572650372	chr11:24396766-24396767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34672927	chr11:24396811-24396812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545079928	chr11:24396852-24396853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369054017	chr11:24396861-24396862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558104075	chr11:24396895-24396896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562526177	chr11:24396912-24396913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145824073	chr11:24396930-24396931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199646115	chr11:24396937-24396938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376450159	chr11:24396952-24396953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76183250	chr11:24396971-24396972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190848136	chr11:24397056-24397057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542994631	chr11:24397218-24397219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56133904	chr11:24397220-24397221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs35846200	chr11:24397225-24397226	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs77812433	chr11:24397226-24397227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554649041	chr11:24397293-24397294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181984970	chr11:24397352-24397353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528226460	chr11:24397353-24397354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565983050	chr11:24397364-24397365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546783084	chr11:24397435-24397436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34601828	chr11:24397436-24397437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548064552	chr11:24397455-24397456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530703462	chr11:24397508-24397509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577443872	chr11:24397521-24397522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550610590	chr11:24397523-24397524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114594160	chr11:24397525-24397526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536138329	chr11:24397531-24397532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1470277	chr11:24397553-24397554	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148569345	chr11:24397554-24397555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538384679	chr11:24397567-24397568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558594644	chr11:24397590-24397591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs578123744	chr11:24397601-24397602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537608320	chr11:24397626-24397627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557687584	chr11:24397638-24397639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1470276	chr11:24397676-24397677	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs543332875	chr11:24397705-24397706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79077417	chr11:24397727-24397728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34316884	chr11:24397729-24397730	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142913332	chr11:24397752-24397753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147758198	chr11:24397815-24397816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74587632	chr11:24397816-24397817	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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24395000-24395200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:24396600-24397000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr11:24396800-24398200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:24397000-24397400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:24397000-24397400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:24397000-24397400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr11:24397200-24398000	Enhancers	Fetal Lung	lung
8	chr11:24397400-24397800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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