Variant report

Variant	nsv976504
Chromosome Location	chr11:105791898-105795864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147642494	chr11:105791901-105791902	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540135997	chr11:105791997-105791998	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558298059	chr11:105792024-105792025	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201374327	chr11:105792030-105792031	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113118955	chr11:105792032-105792033	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371176324	chr11:105792033-105792034	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116122813	chr11:105792034-105792035	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185776521	chr11:105792049-105792050	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs5794436	chr11:105792075-105792076	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs59999727	chr11:105792076-105792077	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534290649	chr11:105792123-105792124	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189294872	chr11:105792130-105792131	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2508471	chr11:105792133-105792134	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565206390	chr11:105792135-105792136	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574150024	chr11:105792189-105792190	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541660111	chr11:105792208-105792209	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142245721	chr11:105792209-105792210	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77058359	chr11:105792210-105792211	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575187440	chr11:105792240-105792241	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1783878	chr11:105792270-105792271	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376505285	chr11:105792303-105792304	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11226877	chr11:105792304-105792305	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546061107	chr11:105792332-105792333	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564189495	chr11:105792373-105792374	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528507991	chr11:105792419-105792420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111792466	chr11:105792429-105792430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145993225	chr11:105792474-105792475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181634791	chr11:105792491-105792492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533713237	chr11:105792540-105792541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574289595	chr11:105792553-105792554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529397464	chr11:105792568-105792569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76513029	chr11:105792593-105792594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151192151	chr11:105792613-105792614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs668564	chr11:105792614-105792615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs533704891	chr11:105792678-105792679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35025529	chr11:105792679-105792680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552069349	chr11:105792693-105792694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567028901	chr11:105792703-105792704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534618148	chr11:105792712-105792713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201383264	chr11:105792717-105792718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73544612	chr11:105792775-105792776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529401506	chr11:105792777-105792778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373074736	chr11:105792790-105792791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186065402	chr11:105792830-105792831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535154910	chr11:105792848-105792849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549537312	chr11:105792886-105792887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556770208	chr11:105792907-105792908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575111272	chr11:105792916-105792917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569256600	chr11:105792966-105792967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531762774	chr11:105793020-105793021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105786000-105793800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:105786400-105793800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:105787200-105793800	Weak transcription	Brain Angular Gyrus	brain
4	chr11:105789200-105793000	Weak transcription	Fetal Lung	lung
5	chr11:105790200-105794000	Weak transcription	Fetal Brain Female	brain
6	chr11:105791400-105792400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:105791800-105792200	Enhancers	Fetal Brain Male	brain
8	chr11:105792200-105793800	Weak transcription	Fetal Brain Male	brain
9	chr11:105792400-105797000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:105793000-105795600	Enhancers	Fetal Lung	lung
11	chr11:105793200-105793400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr11:105793600-105794000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:105793600-105794600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:105793600-105795200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:105793800-105794000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:105793800-105794200	Enhancers	Brain Hippocampus Middle	brain
17	chr11:105793800-105795000	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:105793800-105795400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:105793800-105795400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:105793800-105795400	Enhancers	Brain Angular Gyrus	brain
21	chr11:105793800-105795400	Enhancers	Brain Substantia Nigra	brain
22	chr11:105793800-105795600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr11:105793800-105795600	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr11:105793800-105795600	Enhancers	Fetal Brain Male	brain
25	chr11:105794000-105794800	Enhancers	Colon Smooth Muscle	Colon
26	chr11:105794000-105795200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr11:105794000-105795600	Enhancers	Fetal Brain Female	brain
28	chr11:105794200-105794400	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr11:105794200-105794400	Enhancers	NHDF-Ad	bronchial
30	chr11:105794200-105794600	Enhancers	NH-A	brain
31	chr11:105794200-105795400	Enhancers	Fetal Stomach	stomach
32	chr11:105794400-105795600	Enhancers	Brain Hippocampus Middle	brain
33	chr11:105794600-105794800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:105794600-105795000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:105794600-105797200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr11:105795000-105795200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:105795000-105804600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:105795200-105800200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr11:105795200-105806800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:105795400-105795600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr11:105795400-105795800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:105795400-105800000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:105795400-105805600	Weak transcription	Brain Substantia Nigra	brain
44	chr11:105795600-105795800	Weak transcription	Fetal Lung	lung
45	chr11:105795600-105796400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:105795600-105796600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:105795600-105800000	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:105795600-105805600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr11:105795800-105796200	Enhancers	Fetal Lung	lung
50	chr11:105795800-105797600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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