Variant report

Variant	esv3368267
Chromosome Location	chr8:115952476-115955974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191307079	chr8:115952497-115952498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541965343	chr8:115952500-115952501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13278789	chr8:115952537-115952538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145667567	chr8:115952538-115952539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16886705	chr8:115952548-115952549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs10097665	chr8:115952572-115952573	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs372640303	chr8:115952602-115952603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561362249	chr8:115952660-115952661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147549283	chr8:115952675-115952676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543733129	chr8:115952707-115952708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75840864	chr8:115952711-115952712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16886706	chr8:115952739-115952740	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550986035	chr8:115952789-115952790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566416488	chr8:115952818-115952819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527405923	chr8:115952843-115952844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549055739	chr8:115952869-115952870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182158163	chr8:115952874-115952875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs16886707	chr8:115952915-115952916	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2357739	chr8:115952928-115952929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556534560	chr8:115952945-115952946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115010728	chr8:115952964-115952965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77636552	chr8:115952991-115952992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10100619	chr8:115953005-115953006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs115135017	chr8:115953009-115953010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542800167	chr8:115953024-115953025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540136252	chr8:115953044-115953045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555025202	chr8:115953169-115953170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10101175	chr8:115953225-115953226	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192488406	chr8:115953275-115953276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141979969	chr8:115953329-115953330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80079593	chr8:115953422-115953423	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs541287887	chr8:115953500-115953501	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs559935808	chr8:115953528-115953529	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs7005793	chr8:115953557-115953558	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs6985875	chr8:115953588-115953589	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564730997	chr8:115953596-115953597	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs567342224	chr8:115953629-115953630	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs531404585	chr8:115953639-115953640	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs549140215	chr8:115953645-115953646	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs562042828	chr8:115953671-115953672	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574035864	chr8:115953697-115953698	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs571424308	chr8:115953719-115953720	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs143059936	chr8:115953749-115953750	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs568958893	chr8:115953824-115953825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6989745	chr8:115953830-115953831	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs565966797	chr8:115953920-115953921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6990360	chr8:115954072-115954073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184545912	chr8:115954082-115954083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7839356	chr8:115954091-115954092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576848489	chr8:115954320-115954321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115947800-115953000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:115947800-115953000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr8:115947800-115954200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:115948400-115952800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:115950400-115952800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:115951000-115952600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:115952600-115954000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:115952800-115953800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:115952800-115953800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:115952800-115954000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:115952800-115954000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:115952800-115954200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:115952800-115954200	Enhancers	Hela-S3	cervix
14	chr8:115953000-115953800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:115953000-115954000	Enhancers	Osteobl	bone
16	chr8:115953000-115954200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:115953400-115953600	Active TSS	HSMMtube	muscle
18	chr8:115953400-115953800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:115953400-115953800	Enhancers	NHDF-Ad	bronchial
20	chr8:115953400-115954000	Enhancers	Fetal Heart	heart
21	chr8:115953600-115953800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:115953600-115953800	Flanking Active TSS	HSMMtube	muscle
23	chr8:115953800-115955800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:115953800-115956000	Weak transcription	NHDF-Ad	bronchial
25	chr8:115953800-115965200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:115954000-115956200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:115955800-115956000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:115955800-115957000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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