Variant report

Variant	nsv553822
Chromosome Location	chr11:24774037-24786653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 370 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10834475	chr11:24774037-24774038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189174906	chr11:24774039-24774040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35334526	chr11:24774094-24774095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543761285	chr11:24774122-24774123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538845901	chr11:24774137-24774138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2716442	chr11:24774153-24774154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs552762762	chr11:24774170-24774171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11393528	chr11:24774241-24774242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs67051576	chr11:24774242-24774243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543291346	chr11:24774264-24774265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577287609	chr11:24774290-24774291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145272930	chr11:24774301-24774302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2631416	chr11:24774309-24774310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552011342	chr11:24774322-24774323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565332292	chr11:24774343-24774344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531022207	chr11:24774358-24774359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544680012	chr11:24774368-24774369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551133676	chr11:24774386-24774387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567645952	chr11:24774442-24774443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536276152	chr11:24774456-24774457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546842651	chr11:24774458-24774459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370778484	chr11:24774474-24774475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10834476	chr11:24774506-24774507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs538787584	chr11:24774540-24774541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558336516	chr11:24774549-24774550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181197795	chr11:24774556-24774557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199994066	chr11:24774583-24774584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186212020	chr11:24774596-24774597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537540031	chr11:24774617-24774618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150934243	chr11:24774740-24774741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574352954	chr11:24774747-24774748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539871271	chr11:24774829-24774830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11028140	chr11:24774838-24774839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs555482307	chr11:24774857-24774858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573459639	chr11:24774860-24774861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545762761	chr11:24774861-24774862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2716441	chr11:24774864-24774865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531161225	chr11:24774904-24774905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs36087242	chr11:24774913-24774914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189926742	chr11:24774925-24774926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76814465	chr11:24774964-24774965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561245136	chr11:24774966-24774967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180683208	chr11:24774968-24774969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186120576	chr11:24774979-24774980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566715132	chr11:24775006-24775007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538556501	chr11:24775007-24775008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374697022	chr11:24775008-24775009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374821252	chr11:24775086-24775087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11028141	chr11:24775136-24775137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs370114542	chr11:24775155-24775156	Weak transcription	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
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24769000-24779000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:24769800-24776600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:24776000-24776200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:24776200-24776800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:24776200-24777000	Enhancers	NHEK	skin
6	chr11:24776200-24777400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:24776200-24777600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:24776200-24778000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr11:24776400-24778000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:24776600-24777400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:24776800-24777400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:24776800-24777800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr11:24776800-24777800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr11:24777000-24777600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr11:24777200-24777600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:24777400-24778400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:24777600-24778400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:24777600-24781800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:24777800-24778600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:24778400-24778600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:24781800-24782000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr11:24782200-24783000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr11:24782800-24783200	Enhancers	Primary B cells from peripheral blood	blood

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