Variant report

Variant	esv3346363
Chromosome Location	chr8:107377527-107379073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7009045	chr8:107377565-107377566	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565346848	chr8:107377582-107377583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562898564	chr8:107377630-107377631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140838316	chr8:107377644-107377645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570644035	chr8:107377660-107377661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544055022	chr8:107377661-107377662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562836417	chr8:107377665-107377666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6988934	chr8:107377669-107377670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181110374	chr8:107377699-107377700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559725805	chr8:107377716-107377717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531979455	chr8:107377809-107377810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77964633	chr8:107377816-107377817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552192605	chr8:107377875-107377876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184530622	chr8:107377897-107377898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114599531	chr8:107377916-107377917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550883432	chr8:107377918-107377919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542113090	chr8:107377945-107377946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377497033	chr8:107377958-107377959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569580265	chr8:107377975-107377976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536550283	chr8:107378045-107378046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555205708	chr8:107378083-107378084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189048827	chr8:107378145-107378146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534736867	chr8:107378229-107378230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534159489	chr8:107378248-107378249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180792503	chr8:107378250-107378251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187354598	chr8:107378292-107378293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577401466	chr8:107378339-107378340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544437540	chr8:107378354-107378355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112594742	chr8:107378355-107378356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574532769	chr8:107378376-107378377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150136279	chr8:107378385-107378386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559986169	chr8:107378422-107378423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368563737	chr8:107378471-107378472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548046708	chr8:107378538-107378539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527318043	chr8:107378564-107378565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138774770	chr8:107378568-107378569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563876721	chr8:107378590-107378591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190855853	chr8:107378641-107378642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549799644	chr8:107378659-107378660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569362351	chr8:107378660-107378661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536823243	chr8:107378665-107378666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181690997	chr8:107378681-107378682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568271589	chr8:107378705-107378706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567152530	chr8:107378722-107378723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534220225	chr8:107378734-107378735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141848201	chr8:107378772-107378773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571005653	chr8:107378773-107378774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532554659	chr8:107378825-107378826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116251878	chr8:107378851-107378852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539027890	chr8:107378852-107378853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107362400-107427000	Weak transcription	Aorta	Aorta
2	chr8:107362800-107397000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:107372000-107384400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:107372400-107382400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:107372600-107378600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:107374000-107384000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:107374400-107409800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:107375600-107378800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:107378800-107379800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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