Variant report

Variant	esv1847094
Chromosome Location	chr8:19998948-20006269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 388 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190906082	chr8:19998948-19998949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs56090699	chr8:19998949-19998950	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs62498208	chr8:19998978-19998979	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116525571	chr8:19999107-19999108	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs73210884	chr8:19999114-19999115	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576726786	chr8:19999212-19999213	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs10088489	chr8:19999229-19999230	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555835586	chr8:19999235-19999236	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs562617374	chr8:19999258-19999259	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs73602386	chr8:19999263-19999264	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs535276756	chr8:19999271-19999272	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs73602388	chr8:19999312-19999313	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs114467407	chr8:19999352-19999353	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs545769412	chr8:19999355-19999356	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs146227889	chr8:19999431-19999432	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs369159426	chr8:19999453-19999454	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs575990451	chr8:19999467-19999468	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs543108740	chr8:19999480-19999481	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs139205045	chr8:19999488-19999489	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs529050576	chr8:19999493-19999494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs540852513	chr8:19999542-19999543	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs73669723	chr8:19999588-19999589	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533042303	chr8:19999591-19999592	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs114185355	chr8:19999602-19999603	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs569906293	chr8:19999604-19999605	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs142542641	chr8:19999622-19999623	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs549492378	chr8:19999629-19999630	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs567809099	chr8:19999635-19999636	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs151094087	chr8:19999640-19999641	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs139851746	chr8:19999643-19999644	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs367659275	chr8:19999644-19999645	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs538936906	chr8:19999716-19999717	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs557642156	chr8:19999734-19999735	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs7013494	chr8:19999786-19999787	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs543451578	chr8:19999828-19999829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555023422	chr8:19999876-19999877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114831740	chr8:19999882-19999883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35381078	chr8:19999887-19999888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540740180	chr8:19999892-19999893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181957251	chr8:19999923-19999924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577769300	chr8:19999936-19999937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200264743	chr8:19999963-19999964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201350556	chr8:19999966-19999967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544936018	chr8:19999977-19999978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563643203	chr8:19999981-19999982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374521260	chr8:19999982-19999983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200867782	chr8:19999983-19999984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201373998	chr8:19999984-19999985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368505312	chr8:19999986-19999987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559534762	chr8:19999987-19999988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19993000-19999400	Weak transcription	Esophagus	oesophagus
2	chr8:19993200-20000400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:19994200-20003000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:19997200-19999200	Enhancers	NHEK	skin
5	chr8:19997400-19999200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:19997400-19999800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:19997400-20000400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:19997400-20001000	Enhancers	HMEC	breast
9	chr8:19998200-19999000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:19998200-19999000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr8:19998200-20000600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:19998600-19999600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:19998800-19999600	Enhancers	NH-A	brain
14	chr8:19998800-19999800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:19998800-19999800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr8:19999000-19999200	Enhancers	HSMM	muscle
17	chr8:19999000-19999600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:19999000-19999800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr8:19999200-19999400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:19999200-19999400	Bivalent Enhancer	Osteobl	bone
21	chr8:19999200-19999600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:19999200-19999600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr8:19999200-19999600	Bivalent Enhancer	HSMM	muscle
24	chr8:19999200-19999600	Bivalent Enhancer	NHDF-Ad	bronchial
25	chr8:19999200-19999800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:19999200-19999800	Flanking Active TSS	NHEK	skin
27	chr8:19999400-19999600	Bivalent Enhancer	Placenta	Placenta
28	chr8:19999400-19999600	Bivalent Enhancer	Hela-S3	cervix
29	chr8:19999400-19999800	Enhancers	Esophagus	oesophagus
30	chr8:19999600-19999800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:19999600-19999800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:19999600-20004400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:19999600-20004600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:19999800-20000600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr8:19999800-20000800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:19999800-20001000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:19999800-20002600	Enhancers	NHEK	skin
38	chr8:19999800-20003000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:19999800-20003000	Weak transcription	Esophagus	oesophagus
40	chr8:19999800-20004000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:20000400-20000600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:20000400-20000600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:20000400-20001400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:20000600-20003000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr8:20000600-20003000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr8:20000800-20001200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:20001000-20001400	Weak transcription	HMEC	breast
48	chr8:20001000-20003400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:20001200-20003400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:20001400-20003800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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