Variant report

Variant	esv3368770
Chromosome Location	chr8:105112226-105114374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191519845	chr8:105112226-105112227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540741826	chr8:105112234-105112235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10105325	chr8:105112242-105112243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10090566	chr8:105112269-105112270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184780302	chr8:105112307-105112308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529755904	chr8:105112321-105112322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375202392	chr8:105112338-105112339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10105457	chr8:105112407-105112408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs560292130	chr8:105112479-105112480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527520810	chr8:105112482-105112483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552037355	chr8:105112518-105112519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570377699	chr8:105112604-105112605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553875422	chr8:105112621-105112622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187924333	chr8:105112633-105112634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569164979	chr8:105112676-105112677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536739329	chr8:105112718-105112719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554796217	chr8:105112727-105112728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141283232	chr8:105112798-105112799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146981634	chr8:105112817-105112818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78445326	chr8:105112826-105112827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559218994	chr8:105112847-105112848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11993634	chr8:105112931-105112932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs193014290	chr8:105112939-105112940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116983243	chr8:105113002-105113003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35485153	chr8:105113024-105113025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367575154	chr8:105113038-105113039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571357425	chr8:105113070-105113071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111504647	chr8:105113087-105113088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532091711	chr8:105113095-105113096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185344253	chr8:105113116-105113117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113201367	chr8:105113121-105113122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574396806	chr8:105113162-105113163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370506012	chr8:105113170-105113171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541886393	chr8:105113176-105113177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201432263	chr8:105113177-105113178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201411140	chr8:105113178-105113179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372826871	chr8:105113180-105113181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375907313	chr8:105113187-105113188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58368763	chr8:105113191-105113192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11990342	chr8:105113192-105113193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28497527	chr8:105113198-105113199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189799720	chr8:105113205-105113206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368303876	chr8:105113206-105113207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200814311	chr8:105113208-105113209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536001781	chr8:105113212-105113213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28452508	chr8:105113213-105113214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200335614	chr8:105113217-105113218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28417495	chr8:105113219-105113220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34975613	chr8:105113234-105113235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs201008828	chr8:105113237-105113238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Oral squamous cell carcinoma	21853135	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105085200-105113600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:105088200-105114400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:105113200-105114200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:105114200-105115400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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