Variant report

Variant	esv3414908
Chromosome Location	chr8:1514543-1514905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140294037	chr8:1514546-1514547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181198035	chr8:1514548-1514549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73529622	chr8:1514553-1514554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541774205	chr8:1514560-1514561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78649109	chr8:1514561-1514562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185983569	chr8:1514568-1514569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144244750	chr8:1514602-1514603	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs190449404	chr8:1514647-1514648	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs532070231	chr8:1514665-1514666	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs147839837	chr8:1514708-1514709	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs139202430	chr8:1514713-1514714	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs34541371	chr8:1514724-1514725	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs534490264	chr8:1514745-1514746	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs373345446	chr8:1514746-1514747	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs2956917	chr8:1514749-1514750	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536248226	chr8:1514764-1514765	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs201596854	chr8:1514770-1514771	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs149921667	chr8:1514777-1514778	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs576373875	chr8:1514783-1514784	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs538802799	chr8:1514785-1514786	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs558987022	chr8:1514865-1514866	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs572585408	chr8:1514867-1514868	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs541604233	chr8:1514868-1514869	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs559747232	chr8:1514873-1514874	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs144992294	chr8:1514889-1514890	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs575139785	chr8:1514899-1514900	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	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
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1506000-1516000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1514000-1514800	Weak transcription	Fetal Brain Male	brain
3	chr8:1514600-1516400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr8:1514800-1515400	Enhancers	Fetal Brain Male	brain

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