Variant report

Variant	nsv820151
Chromosome Location	chr11:92718283-92738795
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:92724532..92725473-chr8:56468387..56468887,2	NB4	blood:
2	chr11:92715932..92718758-chr11:92720818..92723433,2	K562	blood:
3	chr11:92733468..92735228-chr11:92742109..92743780,2	K562	blood:
4	chr11:92715932..92718758-chr11:92720818..92723433,2	K562	blood:

Extended variants
information (count: 687 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:687 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545613070	chr11:92718326-92718327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182996760	chr11:92718371-92718372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556375511	chr11:92718381-92718382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76058309	chr11:92718382-92718383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374755924	chr11:92718415-92718416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554401373	chr11:92718507-92718508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367962158	chr11:92718573-92718574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572761655	chr11:92718574-92718575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540267081	chr11:92718581-92718582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558563796	chr11:92718586-92718587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12225378	chr11:92718649-92718650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186208681	chr11:92718665-92718666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562693579	chr11:92718695-92718696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191440720	chr11:92718702-92718703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541766837	chr11:92718735-92718736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373730965	chr11:92718842-92718843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374974087	chr11:92718919-92718920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115834935	chr11:92718945-92718946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138813864	chr11:92718971-92718972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570498563	chr11:92718981-92718982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531708974	chr11:92719027-92719028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549837332	chr11:92719124-92719125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559074422	chr11:92719166-92719167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4611171	chr11:92719207-92719208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs541761254	chr11:92719221-92719222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182401118	chr11:92719223-92719224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554066977	chr11:92719254-92719255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187841502	chr11:92719256-92719257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35688383	chr11:92719312-92719313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149364509	chr11:92719400-92719401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144730936	chr11:92719401-92719402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548296822	chr11:92719416-92719417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377069929	chr11:92719466-92719467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191615051	chr11:92719522-92719523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544325574	chr11:92719564-92719565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138761291	chr11:92719594-92719595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530671502	chr11:92719672-92719673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183300529	chr11:92719675-92719676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10830964	chr11:92719681-92719682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
40	rs4612758	chr11:92719715-92719716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs549270272	chr11:92719745-92719746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369391502	chr11:92719751-92719752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567313281	chr11:92719778-92719779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527620057	chr11:92719815-92719816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188031702	chr11:92719821-92719822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192021322	chr11:92719901-92719902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531553878	chr11:92719970-92719971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73562578	chr11:92719981-92719982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185376207	chr11:92720032-92720033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529344914	chr11:92720089-92720090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Prostate cancer	18632612	CNVD
Breast cancer	17157792	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
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Autism	19546859	CNVD
Fragile x	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92713800-92734000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:92718000-92724000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:92722000-92724400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:92724400-92725600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:92725600-92727000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:92731200-92731400	Enhancers	A549	lung
7	chr11:92731600-92732600	Weak transcription	A549	lung
8	chr11:92732400-92735000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr11:92732400-92736000	Enhancers	Hela-S3	cervix
10	chr11:92732600-92733600	Enhancers	A549	lung
11	chr11:92732800-92733200	Enhancers	HSMM	muscle
12	chr11:92732800-92735800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:92733200-92733400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:92733200-92733600	Weak transcription	HSMM	muscle
15	chr11:92733400-92734400	Enhancers	Osteobl	bone
16	chr11:92733400-92734600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:92733400-92734600	Enhancers	NHDF-Ad	bronchial
18	chr11:92733400-92734800	Enhancers	HUVEC	blood vessel
19	chr11:92733400-92735000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:92733400-92735000	Enhancers	NHEK	skin
21	chr11:92733400-92738200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:92733600-92734200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:92733600-92734600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:92733600-92734600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:92733600-92734600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:92733600-92734600	Flanking Active TSS	A549	lung
27	chr11:92733600-92734600	Enhancers	HSMM	muscle
28	chr11:92733600-92734600	Enhancers	NH-A	brain
29	chr11:92733600-92734800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:92733800-92734200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:92733800-92734200	Enhancers	NHLF	lung
32	chr11:92733800-92734400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:92733800-92735400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:92734000-92734400	Enhancers	HSMMtube	muscle
35	chr11:92734000-92735000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:92734000-92735200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:92734000-92735800	Enhancers	HMEC	breast
38	chr11:92734200-92734600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:92734200-92735200	Enhancers	K562	blood
40	chr11:92734200-92738600	Weak transcription	NHLF	lung
41	chr11:92734600-92735400	Enhancers	A549	lung
42	chr11:92734600-92738400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:92734600-92738400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:92734600-92738400	Weak transcription	HSMM	muscle
45	chr11:92734600-92738400	Weak transcription	NH-A	brain
46	chr11:92734600-92738400	Weak transcription	NHDF-Ad	bronchial
47	chr11:92734800-92738400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:92735000-92737200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:92735000-92738400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:92735000-92738400	Weak transcription	Muscle Satellite Cultured Cells	--

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