Variant report

Variant	esv3480476
Chromosome Location	chr8:58356930-58368651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 453 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:453 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558595499	chr8:58357031-58357032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73593763	chr8:58357109-58357110	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs543541003	chr8:58357191-58357192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575349917	chr8:58357210-58357211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544513937	chr8:58357222-58357223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147374197	chr8:58357259-58357260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528930333	chr8:58357302-58357303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548694694	chr8:58357318-58357319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139586169	chr8:58357350-58357351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76220008	chr8:58357355-58357356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59223404	chr8:58357376-58357377	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147309326	chr8:58357390-58357391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114819846	chr8:58357433-58357434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181474583	chr8:58357477-58357478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540066640	chr8:58357480-58357481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7816166	chr8:58357495-58357496	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs28448484	chr8:58357515-58357516	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs149851796	chr8:58357536-58357537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79368193	chr8:58357563-58357564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145693190	chr8:58357574-58357575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558477793	chr8:58357589-58357590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564936278	chr8:58357620-58357621	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs578232606	chr8:58357626-58357627	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs543653154	chr8:58357628-58357629	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs563437459	chr8:58357631-58357632	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs28579475	chr8:58357634-58357635	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs28542396	chr8:58357660-58357661	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs76972430	chr8:58357662-58357663	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs574458888	chr8:58357683-58357684	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs528535647	chr8:58357740-58357741	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs558887428	chr8:58357755-58357756	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs375655208	chr8:58357782-58357783	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs185765546	chr8:58357783-58357784	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs544930677	chr8:58357799-58357800	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs540629238	chr8:58357913-58357914	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs530771183	chr8:58357926-58357927	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs7835366	chr8:58357951-58357952	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs189645630	chr8:58357975-58357976	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs529338852	chr8:58358011-58358012	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs373816838	chr8:58358023-58358024	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs549416401	chr8:58358054-58358055	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs373421680	chr8:58358056-58358057	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs116920574	chr8:58358070-58358071	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs116236515	chr8:58358071-58358072	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs376522523	chr8:58358084-58358085	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs561972128	chr8:58358091-58358092	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs537663182	chr8:58358133-58358134	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557227269	chr8:58358135-58358136	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs573694716	chr8:58358168-58358169	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs542390721	chr8:58358193-58358194	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58353000-58364400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:58354800-58359800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:58356400-58357000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr8:58357000-58357600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr8:58357600-58358400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr8:58358400-58360400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr8:58359200-58359600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:58359800-58362200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr8:58360000-58361000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:58360000-58361200	Enhancers	GM12878-XiMat	blood
11	chr8:58360400-58361000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr8:58360600-58361000	Enhancers	Primary B cells from cord blood	blood
13	chr8:58360600-58361000	Enhancers	Spleen	Spleen
14	chr8:58361000-58361400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr8:58361000-58362400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:58361200-58361600	Weak transcription	GM12878-XiMat	blood
17	chr8:58361400-58361800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr8:58361600-58362000	Enhancers	GM12878-XiMat	blood
19	chr8:58361600-58362200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:58361800-58362000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr8:58362000-58362800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr8:58362200-58368000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:58362600-58362800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr8:58362600-58363200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:58362800-58364400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr8:58363000-58364000	Enhancers	Fetal Lung	lung
27	chr8:58363200-58370000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:58364000-58365000	Weak transcription	Fetal Lung	lung
29	chr8:58365200-58365400	Enhancers	Fetal Lung	lung
30	chr8:58366800-58370000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:58367800-58370200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:58368000-58368600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr8:58368000-58368600	Enhancers	HSMM	muscle
34	chr8:58368000-58369000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:58368000-58369200	Enhancers	NHDF-Ad	bronchial
36	chr8:58368000-58369800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:58368000-58370200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:58368200-58370200	Enhancers	Colonic Mucosa	Colon
39	chr8:58368200-58371600	Enhancers	Stomach Mucosa	stomach
40	chr8:58368400-58368600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr8:58368400-58369200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
42	chr8:58368600-58368800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr8:58368600-58369000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
44	chr8:58368600-58369000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr8:58368600-58369600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
46	chr8:58368600-58369600	Weak transcription	HSMM	muscle

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