Variant report

Variant	esv2761431
Chromosome Location	chr8:63458672-63467199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63460557..63464454-chr8:63467643..63469936,3	MCF-7	breast:

Extended variants
information (count: 265 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567059736	chr8:63458672-63458673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537927567	chr8:63458814-63458815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544884226	chr8:63458838-63458839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559964107	chr8:63458847-63458848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199838863	chr8:63458909-63458910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574758016	chr8:63458924-63458925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141347796	chr8:63458942-63458943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538207268	chr8:63458943-63458944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139928682	chr8:63458947-63458948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554526191	chr8:63458966-63458967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146949346	chr8:63459019-63459020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190810368	chr8:63459050-63459051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73683329	chr8:63459099-63459100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147590051	chr8:63459114-63459115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537840035	chr8:63459124-63459125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557760286	chr8:63459126-63459127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565194489	chr8:63459128-63459129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13439208	chr8:63459135-63459136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540999939	chr8:63459154-63459155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527476220	chr8:63459215-63459216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574544023	chr8:63459217-63459218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13438922	chr8:63459245-63459246	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183019464	chr8:63459264-63459265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13439470	chr8:63459292-63459293	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561125284	chr8:63459377-63459378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573513081	chr8:63459409-63459410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531362650	chr8:63459417-63459418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117411571	chr8:63459468-63459469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571224944	chr8:63459470-63459471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548728578	chr8:63459571-63459572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547400433	chr8:63459580-63459581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188877539	chr8:63459588-63459589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140665674	chr8:63459612-63459613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs16929139	chr8:63459618-63459619	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs576588799	chr8:63459665-63459666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs41362445	chr8:63459672-63459673	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs71525491	chr8:63459683-63459684	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs116727705	chr8:63459703-63459704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541063184	chr8:63459711-63459712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78507768	chr8:63459713-63459714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77569084	chr8:63459757-63459758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572057939	chr8:63459791-63459792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567254390	chr8:63459805-63459806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193235921	chr8:63459820-63459821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531407497	chr8:63459827-63459828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531553050	chr8:63459832-63459833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138415697	chr8:63459838-63459839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565024054	chr8:63459863-63459864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531378144	chr8:63459898-63459899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367625887	chr8:63459919-63459920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63458200-63459800	Enhancers	Fetal Brain Female	brain
2	chr8:63458600-63460200	Enhancers	Fetal Brain Male	brain
3	chr8:63458800-63459200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:63458800-63459400	Enhancers	Brain Angular Gyrus	brain
5	chr8:63458800-63459600	Enhancers	Brain Cingulate Gyrus	brain
6	chr8:63458800-63460400	Enhancers	Brain Germinal Matrix	brain
7	chr8:63459200-63462800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:63459600-63459800	Enhancers	Colon Smooth Muscle	Colon
9	chr8:63459800-63462600	Weak transcription	Fetal Brain Female	brain
10	chr8:63459800-63465400	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:63460200-63461000	Weak transcription	Fetal Brain Male	brain
12	chr8:63461000-63461800	Enhancers	Fetal Brain Male	brain
13	chr8:63461800-63465200	Weak transcription	Fetal Brain Male	brain
14	chr8:63462600-63462800	Enhancers	Fetal Brain Female	brain
15	chr8:63462800-63463800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:63463400-63463800	Enhancers	Rectal Smooth Muscle	rectum
17	chr8:63463800-63465000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:63463800-63465200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:63465000-63465400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:63465000-63465800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:63465200-63465600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:63465200-63465600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:63465200-63465600	Enhancers	Rectal Smooth Muscle	rectum
24	chr8:63465200-63465800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:63465200-63465800	Enhancers	Fetal Brain Male	brain
26	chr8:63465400-63465600	Enhancers	Colon Smooth Muscle	Colon
27	chr8:63465400-63465600	Enhancers	Fetal Brain Female	brain
28	chr8:63465600-63466000	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:63466000-63466400	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links