Variant report

Variant	nsv8373
Chromosome Location	chr8:114940085-114943472
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184521007	chr8:114940118-114940119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189207494	chr8:114940132-114940133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557924042	chr8:114940171-114940172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571356971	chr8:114940178-114940179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35667284	chr8:114940200-114940201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536697013	chr8:114940235-114940236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556870662	chr8:114940247-114940248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553194223	chr8:114940293-114940294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78649929	chr8:114940329-114940330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542475836	chr8:114940347-114940348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192871041	chr8:114940348-114940349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138769876	chr8:114940370-114940371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184639730	chr8:114940378-114940379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141878945	chr8:114940414-114940415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1476310	chr8:114940509-114940510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs13261468	chr8:114940568-114940569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1476311	chr8:114940597-114940598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs1476312	chr8:114940618-114940619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563657664	chr8:114940668-114940669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529187056	chr8:114940728-114940729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567374109	chr8:114940744-114940745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs5894180	chr8:114940767-114940768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527861343	chr8:114940800-114940801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559672414	chr8:114940837-114940838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1476313	chr8:114940846-114940847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs148310151	chr8:114940883-114940884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189912355	chr8:114940924-114940925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77993671	chr8:114940987-114940988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79944942	chr8:114940997-114940998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76327604	chr8:114941001-114941002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567227246	chr8:114941020-114941021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535848555	chr8:114941076-114941077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555673878	chr8:114941094-114941095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572396162	chr8:114941156-114941157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547163285	chr8:114941186-114941187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180723974	chr8:114941422-114941423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528350117	chr8:114941486-114941487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575629553	chr8:114941489-114941490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185098322	chr8:114941553-114941554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150852883	chr8:114941556-114941557	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Cancer	20164919	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
Sezary syndrome	18413736	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
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114939200-114940200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:114940200-114941200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:114941400-114941600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links