Variant report

Variant	esv6962
Chromosome Location	chr8:118712546-118713379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185516113	chr8:118712550-118712551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564431251	chr8:118712560-118712561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148619754	chr8:118712561-118712562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537853166	chr8:118712570-118712571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149140229	chr8:118712585-118712586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60708193	chr8:118712593-118712594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558090394	chr8:118712596-118712597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189170512	chr8:118712606-118712607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531551694	chr8:118712640-118712641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550860494	chr8:118712693-118712694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12542251	chr8:118712728-118712729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs192213662	chr8:118712733-118712734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373106810	chr8:118712787-118712788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111737726	chr8:118712861-118712862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13273406	chr8:118712984-118712985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13273682	chr8:118713054-118713055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557653689	chr8:118713117-118713118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183673617	chr8:118713118-118713119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375590357	chr8:118713119-118713120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188391335	chr8:118713153-118713154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573691032	chr8:118713172-118713173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543829763	chr8:118713175-118713176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138774615	chr8:118713206-118713207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368116838	chr8:118713207-118713208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10648061	chr8:118713230-118713231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199744141	chr8:118713231-118713232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200696220	chr8:118713233-118713234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201146008	chr8:118713234-118713235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113660938	chr8:118713238-118713239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57316764	chr8:118713253-118713254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199603488	chr8:118713254-118713255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556840112	chr8:118713319-118713320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578169777	chr8:118713332-118713333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181220430	chr8:118713349-118713350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:130)

Disease	PMID	Source
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
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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118689200-118718600	Weak transcription	Osteobl	bone
2	chr8:118692400-118714400	Weak transcription	HSMM	muscle
3	chr8:118694600-118723800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:118702200-118712600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:118702200-118724600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:118705800-118714600	Weak transcription	Esophagus	oesophagus
7	chr8:118708600-118725200	Weak transcription	Ovary	ovary
8	chr8:118709600-118715400	Weak transcription	NHDF-Ad	bronchial
9	chr8:118710400-118713600	Weak transcription	HUVEC	blood vessel
10	chr8:118710400-118737200	Weak transcription	Aorta	Aorta
11	chr8:118710800-118714400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:118711000-118714400	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:118711000-118714600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:118711200-118714400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:118712000-118714400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links