Variant report

Variant	nsv832258
Chromosome Location	chr11:106300363-106427655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:106371773..106374431-chr11:106376092..106377598,2	K562	blood:
2	chr11:106371773..106374431-chr11:106376092..106377598,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AASDHPPT-6	chr11:106423474-106423780	NONHSAT023986
2	lnc-AASDHPPT-6	chr11:106403387-106403542	NONHSAT023986

Extended variants
information (count: 2762 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2762 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4755154	chr11:106311608-106311609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536729760	chr11:106311624-106311625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558655967	chr11:106311677-106311678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570345447	chr11:106311694-106311695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534662533	chr11:106311721-106311722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552694661	chr11:106311730-106311731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574742335	chr11:106311834-106311835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527825281	chr11:106311867-106311868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10895956	chr11:106311915-106311916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557163030	chr11:106311943-106311944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575536930	chr11:106311963-106311964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144798217	chr11:106312011-106312012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138735996	chr11:106312014-106312015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74938775	chr11:106312024-106312025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2458335	chr11:106312053-106312054	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs190801361	chr11:106312064-106312065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561763767	chr11:106312069-106312070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529517401	chr11:106312073-106312074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550891975	chr11:106312133-106312134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536520991	chr11:106312182-106312183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11383514	chr11:106312183-106312184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562729537	chr11:106312191-106312192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533392049	chr11:106312221-106312222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140409192	chr11:106312322-106312323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150388808	chr11:106312323-106312324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570478745	chr11:106312345-106312346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs137896419	chr11:106312384-106312385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546538770	chr11:106312396-106312397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568082606	chr11:106312402-106312403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551610122	chr11:106312411-106312412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535724980	chr11:106312449-106312450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183000373	chr11:106312573-106312574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs57943374	chr11:106312602-106312603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72292480	chr11:106312621-106312622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59304091	chr11:106312623-106312624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575500609	chr11:106312631-106312632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550078251	chr11:106312667-106312668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539666458	chr11:106312669-106312670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57961606	chr11:106312682-106312683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs74705007	chr11:106312715-106312716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149467596	chr11:106312737-106312738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185828632	chr11:106312755-106312756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561726797	chr11:106312793-106312794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143941890	chr11:106312814-106312815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190290002	chr11:106312820-106312821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs994791	chr11:106312842-106312843	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs373991699	chr11:106312915-106312916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183043639	chr11:106312933-106312934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551908080	chr11:106312939-106312940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560533609	chr11:106312950-106312951	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Obesity	19966786	CNVD
Prostate cancer	18632612	CNVD
Melanoma	17363583	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106311600-106313400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr11:106312600-106313400	Enhancers	NHDF-Ad	bronchial
3	chr11:106312600-106313800	Enhancers	Osteobl	bone
4	chr11:106313400-106317400	Weak transcription	NHDF-Ad	bronchial
5	chr11:106313400-106317800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:106313800-106317400	Weak transcription	Osteobl	bone
7	chr11:106315600-106319200	Enhancers	Dnd41	blood
8	chr11:106316800-106318000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:106317200-106318400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:106317200-106318800	Enhancers	Brain Anterior Caudate	brain
11	chr11:106317400-106318000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:106317400-106318000	Enhancers	Fetal Lung	lung
13	chr11:106317400-106318000	Enhancers	Ovary	ovary
14	chr11:106317400-106318200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:106317400-106318200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:106317400-106318400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:106317400-106318600	Enhancers	Osteobl	bone
18	chr11:106317400-106318800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:106317400-106318800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:106317400-106319200	Enhancers	NHDF-Ad	bronchial
21	chr11:106317400-106319600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:106317600-106318000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:106317600-106318000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr11:106317600-106318200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr11:106317600-106318800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr11:106317600-106319400	Enhancers	HSMM	muscle
27	chr11:106317800-106318000	Enhancers	Stomach Smooth Muscle	stomach
28	chr11:106317800-106318200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:106317800-106318200	Enhancers	Pancreas	Pancrea
30	chr11:106317800-106318200	Enhancers	Rectal Smooth Muscle	rectum
31	chr11:106317800-106318400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:106317800-106318400	Enhancers	HMEC	breast
33	chr11:106317800-106319200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:106318000-106318400	Enhancers	HSMMtube	muscle
35	chr11:106318000-106320600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:106318000-106320600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:106318200-106318400	Weak transcription	Pancreas	Pancrea
38	chr11:106318200-106318600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:106318400-106318800	Enhancers	Pancreas	Pancrea
40	chr11:106318600-106318800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:106318800-106320600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:106318800-106320600	Weak transcription	Pancreas	Pancrea
43	chr11:106318800-106320800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:106319600-106320800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:106320400-106320600	Enhancers	A549	lung
46	chr11:106320400-106321400	Enhancers	HepG2	liver
47	chr11:106320600-106320800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:106320600-106320800	ZNF genes & repeats	Pancreas	Pancrea
49	chr11:106320600-106321000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:106320600-106321000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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