Variant report

Variant	esv1849826
Chromosome Location	chr8:19992447-20006115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 719 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77120746	chr8:19992449-19992450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139057126	chr8:19992487-19992488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556176596	chr8:19992488-19992489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549861794	chr8:19992528-19992529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574724538	chr8:19992529-19992530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541838103	chr8:19992538-19992539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554172380	chr8:19992541-19992542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572124143	chr8:19992572-19992573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188160130	chr8:19992582-19992583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77265284	chr8:19992583-19992584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561875281	chr8:19992589-19992590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564250010	chr8:19992604-19992605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181180931	chr8:19992617-19992618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369051418	chr8:19992643-19992644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544039737	chr8:19992655-19992656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562220695	chr8:19992687-19992688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540476890	chr8:19992700-19992701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529624336	chr8:19992721-19992722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373254227	chr8:19992756-19992757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370951006	chr8:19992763-19992764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149875228	chr8:19992773-19992774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566432682	chr8:19992810-19992811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185627656	chr8:19992828-19992829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111472512	chr8:19992876-19992877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570603576	chr8:19992898-19992899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556353581	chr8:19992942-19992943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144971795	chr8:19992945-19992946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11997907	chr8:19992955-19992956	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs370602639	chr8:19992995-19992996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140904805	chr8:19992997-19992998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572068102	chr8:19993027-19993028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113237493	chr8:19993031-19993032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557826829	chr8:19993048-19993049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146855021	chr8:19993050-19993051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543637084	chr8:19993055-19993056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562272937	chr8:19993097-19993098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7008859	chr8:19993102-19993103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541666534	chr8:19993110-19993111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560101452	chr8:19993142-19993143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191512046	chr8:19993215-19993216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141561875	chr8:19993221-19993222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368178689	chr8:19993261-19993262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371977375	chr8:19993262-19993263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35091123	chr8:19993288-19993289	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183779116	chr8:19993373-19993374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75440257	chr8:19993382-19993383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549626865	chr8:19993398-19993399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528115751	chr8:19993425-19993426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568219451	chr8:19993444-19993445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186853394	chr8:19993468-19993469	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:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19978000-19993600	Weak transcription	Right Ventricle	heart
2	chr8:19987200-19992600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:19987200-19992600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:19987200-19995000	Weak transcription	HMEC	breast
5	chr8:19988000-19992800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:19992200-19993600	Enhancers	NHEK	skin
7	chr8:19992400-19993000	Enhancers	Esophagus	oesophagus
8	chr8:19992400-19993600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:19992600-19993200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:19992600-19993200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:19992800-19993000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:19992800-19993000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:19992800-19993000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:19992800-19993200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:19992800-19993200	Enhancers	Fetal Intestine Large	intestine
16	chr8:19993000-19993200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:19993000-19993400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:19993000-19993800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:19993000-19995000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:19993000-19999400	Weak transcription	Esophagus	oesophagus
21	chr8:19993200-19993600	Weak transcription	Fetal Intestine Large	intestine
22	chr8:19993200-19995000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:19993200-19995400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:19993200-19998400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:19993200-20000400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:19993400-19994200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:19993600-19993800	Enhancers	Right Ventricle	heart
28	chr8:19993600-19994200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:19993600-19994200	Enhancers	Fetal Intestine Large	intestine
30	chr8:19993600-19995000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:19993600-19995000	Weak transcription	NHEK	skin
32	chr8:19993800-19994000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:19993800-19994000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:19993800-19994200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr8:19993800-19994200	Enhancers	Fetal Intestine Small	intestine
36	chr8:19993800-19994200	Enhancers	Fetal Kidney	kidney
37	chr8:19994000-19994200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr8:19994000-19994200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:19994000-19994400	Enhancers	Fetal Muscle Trunk	muscle
40	chr8:19994000-19994800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:19994000-19995000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:19994200-19994800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:19994200-19995000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:19994200-19995200	Weak transcription	Fetal Intestine Small	intestine
45	chr8:19994200-19995200	Weak transcription	Fetal Kidney	kidney
46	chr8:19994200-19995400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:19994200-19998200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:19994200-19998200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:19994200-20003000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:19994400-19994600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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