Variant report

Variant	nsv975370
Chromosome Location	chr11:104446828-104453857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 260 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138071079	chr11:104446843-104446844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs56112720	chr11:104446904-104446905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145897555	chr11:104446945-104446946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374366028	chr11:104446946-104446947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188271524	chr11:104446989-104446990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180842826	chr11:104447005-104447006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374292501	chr11:104447016-104447017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559891485	chr11:104447060-104447061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs118006214	chr11:104447098-104447099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187277408	chr11:104447128-104447129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550559450	chr11:104447216-104447217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564764074	chr11:104447229-104447230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117097213	chr11:104447230-104447231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113722049	chr11:104447248-104447249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550866441	chr11:104447253-104447254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190511307	chr11:104447264-104447265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529840701	chr11:104447283-104447284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546285988	chr11:104447316-104447317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566270430	chr11:104447327-104447328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376267492	chr11:104447350-104447351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532372463	chr11:104447371-104447372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568858801	chr11:104447391-104447392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552139234	chr11:104447411-104447412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144072944	chr11:104447412-104447413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369262215	chr11:104447433-104447434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371684460	chr11:104447459-104447460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557645899	chr11:104447548-104447549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574240347	chr11:104447574-104447575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181724947	chr11:104447591-104447592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368258144	chr11:104447593-104447594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565867064	chr11:104447605-104447606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185925889	chr11:104447635-104447636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554785036	chr11:104447660-104447661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573399388	chr11:104447724-104447725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568522028	chr11:104447730-104447731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148243578	chr11:104447825-104447826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565098342	chr11:104447845-104447846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190591572	chr11:104447891-104447892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372354112	chr11:104447939-104447940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182835457	chr11:104447986-104447987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561282293	chr11:104448041-104448042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529829006	chr11:104448061-104448062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185615653	chr11:104448086-104448087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78358247	chr11:104448088-104448089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532113768	chr11:104448125-104448126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552266217	chr11:104448147-104448148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78386210	chr11:104448254-104448255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113059787	chr11:104448285-104448286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139526951	chr11:104448321-104448322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189982392	chr11:104448336-104448337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104445000-104453400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:104447400-104450600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:104448000-104448800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:104448800-104449200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr11:104448800-104449200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr11:104449200-104450000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:104449200-104450200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:104450000-104451200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:104450200-104452200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:104450200-104452600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr11:104450200-104453600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr11:104450400-104453800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr11:104450600-104452000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr11:104450600-104452200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:104450800-104451000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:104450800-104451600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr11:104451000-104452000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:104451200-104452800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr11:104451600-104452400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:104451800-104452400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:104452000-104452400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr11:104452000-104452400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr11:104452000-104452600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:104452000-104452600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:104452000-104452800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:104452200-104452400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr11:104452200-104452600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:104452200-104452600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr11:104452400-104452600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr11:104452400-104452600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr11:104452400-104452600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr11:104452600-104452800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr11:104452600-104452800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr11:104452600-104453000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr11:104452600-104453000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:104452800-104453000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr11:104453000-104453600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:104453400-104455600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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