Variant report

Variant	esv33773
Chromosome Location	chr8:69951243-69952200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:69942123..69945264-chr8:69951482..69954001,3	MCF-7	breast:
2	chr8:69950771..69953657-chr8:69955628..69958429,2	MCF-7	breast:
3	chr8:69950249..69951981-chr8:69958814..69960686,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2912507	chr8:69951249-69951250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527327562	chr8:69951251-69951252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184976836	chr8:69951256-69951257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189011792	chr8:69951291-69951292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550369132	chr8:69951299-69951300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539895195	chr8:69951327-69951328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112391178	chr8:69951342-69951343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538744230	chr8:69951343-69951344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181781491	chr8:69951381-69951382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569026287	chr8:69951420-69951421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373866280	chr8:69951435-69951436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573413187	chr8:69951445-69951446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112576671	chr8:69951510-69951511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535060475	chr8:69951559-69951560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554544050	chr8:69951571-69951572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2981065	chr8:69951581-69951582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2981064	chr8:69951598-69951599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562324364	chr8:69951614-69951615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184657568	chr8:69951662-69951663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544773973	chr8:69951678-69951679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34253997	chr8:69951707-69951708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76798183	chr8:69951749-69951750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189441671	chr8:69951758-69951759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4737937	chr8:69951814-69951815	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs180850666	chr8:69951842-69951843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149302454	chr8:69951851-69951852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547153948	chr8:69951862-69951863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73284662	chr8:69951918-69951919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539270530	chr8:69951920-69951921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11994198	chr8:69951939-69951940	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs371201344	chr8:69951993-69951994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534826453	chr8:69951994-69951995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554505218	chr8:69952014-69952015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567055651	chr8:69952039-69952040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144580800	chr8:69952105-69952106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560213022	chr8:69952179-69952180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Cancer	16751803	CNVD
Salivary gland tumor	18059337	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69941000-69951600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:69944000-69953600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:69946200-69951600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:69946200-69951600	Weak transcription	NHDF-Ad	bronchial
5	chr8:69946600-69955400	Weak transcription	Fetal Lung	lung
6	chr8:69946800-69951600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:69947400-69951600	Weak transcription	HSMM	muscle
8	chr8:69947600-69951800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:69947800-69951600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:69948000-69951600	Weak transcription	Osteobl	bone
11	chr8:69951600-69952000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:69951600-69952000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:69951600-69952000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:69951600-69952000	Enhancers	HSMM	muscle
15	chr8:69951600-69952200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:69951600-69952200	Enhancers	NHDF-Ad	bronchial
17	chr8:69951600-69952400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:69951600-69952400	Enhancers	HMEC	breast
19	chr8:69951600-69952400	Enhancers	NHEK	skin
20	chr8:69951600-69952400	Enhancers	Osteobl	bone
21	chr8:69951600-69952600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:69951800-69952600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:69952000-69959400	Weak transcription	HSMM	muscle
24	chr8:69952200-69953600	Weak transcription	Aorta	Aorta

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