Variant report

Variant	esv3481433
Chromosome Location	chr8:116085988-116087103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184197790	chr8:116086032-116086033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs893068	chr8:116086163-116086164	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557026242	chr8:116086190-116086191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534430862	chr8:116086260-116086261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115914135	chr8:116086355-116086356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374612626	chr8:116086378-116086379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568055568	chr8:116086388-116086389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141790137	chr8:116086431-116086432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17672870	chr8:116086438-116086439	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150817678	chr8:116086483-116086484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138158879	chr8:116086490-116086491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558012912	chr8:116086502-116086503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374271556	chr8:116086515-116086516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188547160	chr8:116086557-116086558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193000025	chr8:116086586-116086587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149585235	chr8:116086684-116086685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573974113	chr8:116086718-116086719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370754210	chr8:116086719-116086720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs386729016	chr8:116086757-116086758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184700521	chr8:116086758-116086759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs118064657	chr8:116086839-116086840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560326341	chr8:116086871-116086872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528132792	chr8:116086959-116086960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112078485	chr8:116086982-116086983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568111788	chr8:116087014-116087015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
Glioblastoma multiforme	21080181	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
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
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:116081600-116088400	Weak transcription	Fetal Heart	heart
2	chr8:116081600-116088600	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:116082800-116086400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:116083200-116088800	Weak transcription	Adipose Nuclei	Adipose
5	chr8:116084000-116088400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:116084000-116088400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:116084400-116088400	Weak transcription	Osteobl	bone
8	chr8:116084600-116086600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:116084600-116088600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:116085600-116089600	Enhancers	Dnd41	blood
11	chr8:116085800-116086200	Enhancers	Fetal Lung	lung
12	chr8:116085800-116086600	Enhancers	Brain Anterior Caudate	brain
13	chr8:116086200-116086600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:116086200-116088400	Weak transcription	Fetal Lung	lung
15	chr8:116086400-116088800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr8:116086600-116087200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:116086600-116088400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:116086600-116088600	Weak transcription	Brain Anterior Caudate	brain
19	chr8:116087000-116087200	Enhancers	Rectal Smooth Muscle	rectum

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