Variant report

Variant	nsv553865
Chromosome Location	chr11:25294118-25358529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 545 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6484128	chr11:25302402-25302403	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs568187884	chr11:25302410-25302411	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs533633316	chr11:25302423-25302424	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs553378599	chr11:25302427-25302428	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186270981	chr11:25302463-25302464	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs539009635	chr11:25302478-25302479	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs11028555	chr11:25302490-25302491	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs575804050	chr11:25302508-25302509	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs553045652	chr11:25302535-25302536	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs544839736	chr11:25302536-25302537	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs11584673	chr11:25302539-25302540	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577667437	chr11:25302567-25302568	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs561316298	chr11:25302569-25302570	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs574911921	chr11:25302583-25302584	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs370896691	chr11:25302585-25302586	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs148086688	chr11:25302599-25302600	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs113791756	chr11:25302634-25302635	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs532566421	chr11:25302639-25302640	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs552557215	chr11:25302670-25302671	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs111376177	chr11:25302672-25302673	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs531497012	chr11:25302673-25302674	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs2194904	chr11:25302675-25302676	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs2194903	chr11:25302699-25302700	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs72871991	chr11:25302700-25302701	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs547103896	chr11:25302701-25302702	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs369830551	chr11:25302706-25302707	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs570173958	chr11:25302714-25302715	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs539052363	chr11:25302715-25302716	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs186288154	chr11:25302722-25302723	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs113050045	chr11:25302723-25302724	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs183228875	chr11:25302726-25302727	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs555174753	chr11:25302728-25302729	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs371587277	chr11:25302762-25302763	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs113687034	chr11:25302768-25302769	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs2217030	chr11:25302772-25302773	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs35499039	chr11:25302800-25302801	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs554309831	chr11:25302802-25302803	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs545817790	chr11:25302813-25302814	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs577411181	chr11:25302821-25302822	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs546259997	chr11:25302822-25302823	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs186476890	chr11:25302850-25302851	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs189070667	chr11:25302851-25302852	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs190517824	chr11:25302861-25302862	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs541777059	chr11:25302869-25302870	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs561981427	chr11:25302880-25302881	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs527490502	chr11:25302881-25302882	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs183774528	chr11:25302893-25302894	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs570261449	chr11:25302895-25302896	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs181238416	chr11:25302899-25302900	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs532857028	chr11:25302901-25302902	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25302400-25303000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr11:25312400-25314800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:25313600-25313800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:25313800-25322800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:25315000-25316400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:25321200-25321400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:25339400-25340000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:25339400-25340600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:25340000-25340400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:25340400-25340800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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