Variant report

Variant	esv3405556
Chromosome Location	chr8:58351423-58353971
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM110B-11	chr8:58352607-58353048	l_3603_chr8:58348578-58353048_testes

Extended variants
information (count: 98 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550380724	chr8:58351427-58351428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138153486	chr8:58351451-58351452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536046230	chr8:58351453-58351454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190465085	chr8:58351505-58351506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566040571	chr8:58351509-58351510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141628035	chr8:58351535-58351536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555734834	chr8:58351587-58351588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182238882	chr8:58351626-58351627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558144006	chr8:58351641-58351642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578251098	chr8:58351669-58351670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575274531	chr8:58351707-58351708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537713306	chr8:58351721-58351722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557603821	chr8:58351747-58351748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544355354	chr8:58351799-58351800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186787927	chr8:58351800-58351801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9643499	chr8:58351810-58351811	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572808996	chr8:58351855-58351856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9643500	chr8:58351881-58351882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs564509374	chr8:58351889-58351890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530727524	chr8:58351956-58351957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550493426	chr8:58352001-58352002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7837934	chr8:58352032-58352033	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190308228	chr8:58352088-58352089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112835790	chr8:58352104-58352105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535075004	chr8:58352106-58352107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551822612	chr8:58352113-58352114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571635183	chr8:58352114-58352115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537427257	chr8:58352115-58352116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557682837	chr8:58352163-58352164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10608038	chr8:58352193-58352194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547255602	chr8:58352194-58352195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10090339	chr8:58352253-58352254	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs117107001	chr8:58352288-58352289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199931844	chr8:58352306-58352307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs60664715	chr8:58352307-58352308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs72065972	chr8:58352309-58352310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71517995	chr8:58352310-58352311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10608039	chr8:58352312-58352313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112670958	chr8:58352328-58352329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572623985	chr8:58352345-58352346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576195734	chr8:58352441-58352442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56798085	chr8:58352443-58352444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11782562	chr8:58352470-58352471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181331713	chr8:58352471-58352472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185414504	chr8:58352510-58352511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375365202	chr8:58352521-58352522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574919310	chr8:58352631-58352632	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs6995173	chr8:58352632-58352633	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs28538457	chr8:58352734-58352735	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529907202	chr8:58352820-58352821	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58350400-58352400	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr8:58351000-58352200	Enhancers	Liver	Liver
3	chr8:58351400-58351600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:58351800-58353000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr8:58352400-58352800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr8:58352800-58353600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr8:58353000-58364400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:58353200-58354200	Enhancers	Fetal Lung	lung
9	chr8:58353400-58354000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:58353400-58354600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:58353400-58354800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr8:58353600-58354000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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