Variant report

Variant	nsv481
Chromosome Location	chr11:108921271-108946545
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:108873859..108875938-chr11:108935111..108937056,2	K562	blood:
2	chr11:108936870..108939701-chr11:108941192..108943026,2	K562	blood:
3	chr11:108936870..108939701-chr11:108941192..108943026,2	K562	blood:
4	chr11:108927357..108928938-chr11:108932482..108934210,2	K562	blood:
5	chr11:108927357..108928938-chr11:108932482..108934210,2	K562	blood:

Extended variants
information (count: 826 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:826 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17109048	chr11:108921295-108921296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180895356	chr11:108921316-108921317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10502109	chr11:108921323-108921324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs79887224	chr11:108921353-108921354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75521675	chr11:108921410-108921411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs80159292	chr11:108921422-108921423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184006892	chr11:108921425-108921426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113566284	chr11:108921443-108921444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78218568	chr11:108921457-108921458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577214766	chr11:108921460-108921461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541056573	chr11:108921516-108921517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188749820	chr11:108921617-108921618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112985091	chr11:108921667-108921668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542462597	chr11:108921686-108921687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11212892	chr11:108921723-108921724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531238881	chr11:108921775-108921776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528347298	chr11:108921782-108921783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552786176	chr11:108921786-108921787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561104558	chr11:108921817-108921818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528195528	chr11:108921832-108921833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546264705	chr11:108921833-108921834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575169417	chr11:108921863-108921864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567844315	chr11:108921889-108921890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199982090	chr11:108921958-108921959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374274423	chr11:108922016-108922017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181519773	chr11:108922020-108922021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373705262	chr11:108922039-108922040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72996782	chr11:108922124-108922125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs370389104	chr11:108922156-108922157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75181054	chr11:108922157-108922158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12793218	chr11:108922180-108922181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs147525021	chr11:108922181-108922182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190580304	chr11:108922409-108922410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs56922909	chr11:108922418-108922419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563872274	chr11:108922426-108922427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11607408	chr11:108922446-108922447	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs374804617	chr11:108922477-108922478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140206029	chr11:108922498-108922499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573410204	chr11:108922499-108922500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4095348	chr11:108922505-108922506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs142764067	chr11:108922513-108922514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150622926	chr11:108922516-108922517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561314949	chr11:108922523-108922524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528966539	chr11:108922538-108922539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139763014	chr11:108922541-108922542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139194379	chr11:108925814-108925815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34723696	chr11:108925839-108925840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149969569	chr11:108925899-108925900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145094112	chr11:108925912-108925913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532699727	chr11:108925950-108925951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Chronic lymphocytic leukemia	21546498	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
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
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
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
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108915600-108922000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:108922000-108922200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr11:108922000-108922200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:108922400-108922600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:108925800-108926200	Enhancers	Fetal Kidney	kidney
6	chr11:108925800-108931000	Weak transcription	Right Atrium	heart
7	chr11:108928200-108929200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:108929400-108930000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr11:108929600-108930200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr11:108929800-108930000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
11	chr11:108930000-108930400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr11:108930200-108930400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:108930200-108930400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:108930200-108930600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr11:108930800-108931400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:108932400-108935800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:108932800-108933400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr11:108933000-108933200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:108933000-108933600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:108933000-108934000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:108933000-108934000	Enhancers	Osteobl	bone
22	chr11:108933200-108933800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:108933800-108934000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:108935200-108936000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:108935200-108936200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:108935200-108936600	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:108935400-108935800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr11:108935400-108936000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:108935400-108936000	Enhancers	Thymus	Thymus
30	chr11:108935400-108937000	Enhancers	Fetal Thymus	thymus
31	chr11:108935600-108936000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:108935600-108936200	Enhancers	Dnd41	blood
33	chr11:108935800-108936000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:108935800-108936200	Enhancers	Primary T cells from cord blood	blood
35	chr11:108936000-108936400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:108936000-108936400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr11:108936000-108936400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:108936000-108937000	Weak transcription	Thymus	Thymus
39	chr11:108936400-108937000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:108936400-108937200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:108937000-108937200	Enhancers	Thymus	Thymus
42	chr11:108937000-108938600	Weak transcription	Fetal Thymus	thymus
43	chr11:108937000-108940400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:108937200-108938400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:108938400-108938800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:108938600-108939200	Enhancers	Fetal Thymus	thymus
47	chr11:108938600-108939200	Enhancers	Thymus	Thymus
48	chr11:108939800-108940200	Enhancers	HUVEC	blood vessel
49	chr11:108941400-108943400	Enhancers	Fetal Heart	heart
50	chr11:108941600-108943400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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