Variant report

Variant	esv2751034
Chromosome Location	chr11:83801970-83840272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:83793620..83796046-chr11:83800268..83802351,2	K562	blood:
2	chr11:83814523..83816503-chr11:83818497..83820739,3	MCF-7	breast:
3	chr11:83814523..83816503-chr11:83818497..83820739,3	MCF-7	breast:

Extended variants
information (count: 1555 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1555 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7109671	chr11:83801970-83801971	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146044887	chr11:83801986-83801987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551087936	chr11:83801998-83801999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542974605	chr11:83802005-83802006	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs185950447	chr11:83802006-83802007	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs374536348	chr11:83802028-83802029	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs576704001	chr11:83802046-83802047	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs376356235	chr11:83802082-83802083	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs189936009	chr11:83802126-83802127	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs75136972	chr11:83802182-83802183	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs529944715	chr11:83802205-83802206	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548772431	chr11:83802210-83802211	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548084352	chr11:83802223-83802224	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561321868	chr11:83802278-83802279	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143417005	chr11:83802315-83802316	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183223727	chr11:83802352-83802353	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187936143	chr11:83802373-83802374	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145575167	chr11:83802380-83802381	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548111427	chr11:83802387-83802388	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76916688	chr11:83802402-83802403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59861332	chr11:83802424-83802425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148448113	chr11:83802435-83802436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199759535	chr11:83802439-83802440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58819811	chr11:83802445-83802446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11828208	chr11:83802471-83802472	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567097679	chr11:83802530-83802531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575697883	chr11:83802545-83802546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536778229	chr11:83802576-83802577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558115440	chr11:83802598-83802599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535567099	chr11:83802605-83802606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367698198	chr11:83802622-83802623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557064615	chr11:83802675-83802676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34899787	chr11:83802683-83802684	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs113765910	chr11:83802716-83802717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371481321	chr11:83802772-83802773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574651299	chr11:83802774-83802775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76209706	chr11:83802782-83802783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539867656	chr11:83802907-83802908	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75459250	chr11:83802920-83802921	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117399480	chr11:83802963-83802964	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116413416	chr11:83802997-83802998	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192667194	chr11:83803039-83803040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557856668	chr11:83803042-83803043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573489369	chr11:83803064-83803065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377274019	chr11:83803108-83803109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142349024	chr11:83803135-83803136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566445956	chr11:83803140-83803141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547478370	chr11:83803176-83803177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566322399	chr11:83803227-83803228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538193700	chr11:83803236-83803237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	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
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83799600-83803800	Enhancers	Brain Hippocampus Middle	brain
2	chr11:83799800-83802400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:83799800-83803400	Enhancers	Brain Substantia Nigra	brain
4	chr11:83800000-83803000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:83800400-83802000	Enhancers	Liver	Liver
6	chr11:83800600-83803200	Enhancers	Brain Cingulate Gyrus	brain
7	chr11:83800800-83802000	Weak transcription	Brain Anterior Caudate	brain
8	chr11:83801000-83802200	Weak transcription	Ovary	ovary
9	chr11:83801200-83802400	Weak transcription	Fetal Heart	heart
10	chr11:83801400-83802000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:83801400-83802200	Weak transcription	Brain Angular Gyrus	brain
12	chr11:83801400-83813400	Weak transcription	Brain Germinal Matrix	brain
13	chr11:83801600-83803200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr11:83802000-83802200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:83802000-83802400	Flanking Active TSS	Liver	Liver
16	chr11:83802000-83802600	Enhancers	Brain Anterior Caudate	brain
17	chr11:83802200-83802600	Weak transcription	HSMMtube	muscle
18	chr11:83802200-83803400	Enhancers	Brain Angular Gyrus	brain
19	chr11:83802400-83802600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:83802400-83802600	Enhancers	Ovary	ovary
21	chr11:83802400-83802600	Enhancers	Pancreas	Pancrea
22	chr11:83802400-83802800	Enhancers	Liver	Liver
23	chr11:83802400-83803400	Enhancers	Fetal Heart	heart
24	chr11:83802600-83812200	Weak transcription	Brain Anterior Caudate	brain
25	chr11:83802800-83803000	Flanking Active TSS	Liver	Liver
26	chr11:83802800-83803000	Enhancers	HSMMtube	muscle
27	chr11:83803000-83803400	Enhancers	Liver	Liver
28	chr11:83803000-83812600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:83803200-83807000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:83803200-83807400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:83803400-83807800	Weak transcription	Fetal Heart	heart
32	chr11:83803400-83808200	Weak transcription	Brain Substantia Nigra	brain
33	chr11:83803400-83811600	Weak transcription	Brain Angular Gyrus	brain
34	chr11:83803800-83804200	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:83804200-83804400	Enhancers	Brain Hippocampus Middle	brain
36	chr11:83804400-83807000	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:83807000-83807400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr11:83807000-83807600	Enhancers	Brain Hippocampus Middle	brain
39	chr11:83807200-83807600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:83807400-83808600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:83807400-83808600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:83807400-83808600	Enhancers	Brain Cingulate Gyrus	brain
43	chr11:83807400-83808600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:83807400-83809600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:83807600-83808800	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:83807800-83809000	Enhancers	Fetal Heart	heart
47	chr11:83808000-83808400	Enhancers	NH-A	brain
48	chr11:83808200-83808600	Enhancers	Adipose Nuclei	Adipose
49	chr11:83808200-83808600	Enhancers	Brain Substantia Nigra	brain
50	chr11:83808400-83808800	Enhancers	Fetal Lung	lung

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