Variant report

Variant	esv1814416
Chromosome Location	chr8:69678607-69683846
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:69677317..69679811-chr8:69757202..69760152,2	MCF-7	breast:
2	chr8:69670378..69672339-chr8:69676760..69679321,2	MCF-7	breast:
3	chr8:69671516..69674416-chr8:69676691..69679997,3	MCF-7	breast:

Extended variants
information (count: 215 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569620971	chr8:69678611-69678612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142626883	chr8:69678618-69678619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10957446	chr8:69678632-69678633	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572438804	chr8:69678694-69678695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576800351	chr8:69678744-69678745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565138430	chr8:69678759-69678760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536092626	chr8:69678765-69678766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541191453	chr8:69678808-69678809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554746301	chr8:69678818-69678819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574799950	chr8:69678874-69678875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187239690	chr8:69678876-69678877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147621703	chr8:69678892-69678893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374655282	chr8:69678898-69678899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192047855	chr8:69678907-69678908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546255866	chr8:69678922-69678923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28702683	chr8:69678923-69678924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541254434	chr8:69678935-69678936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142256817	chr8:69678936-69678937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114738471	chr8:69678939-69678940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572194426	chr8:69678995-69678996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185188139	chr8:69679053-69679054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547566881	chr8:69679082-69679083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541088712	chr8:69679103-69679104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567460901	chr8:69679161-69679162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529886346	chr8:69679177-69679178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563933709	chr8:69679179-69679180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549844588	chr8:69679182-69679183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190474264	chr8:69679190-69679191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182090243	chr8:69679194-69679195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377729198	chr8:69679201-69679202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs55836089	chr8:69679217-69679218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112205459	chr8:69679253-69679254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185798537	chr8:69679269-69679270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374316917	chr8:69679309-69679310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554883265	chr8:69679321-69679322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530306514	chr8:69679322-69679323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543685973	chr8:69679335-69679336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1016585	chr8:69679360-69679361	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs560834099	chr8:69679370-69679371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577284324	chr8:69679371-69679372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546194363	chr8:69679381-69679382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72668529	chr8:69679387-69679388	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs572327211	chr8:69679388-69679389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180893838	chr8:69679401-69679402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536912037	chr8:69679431-69679432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185348812	chr8:69679451-69679452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561072801	chr8:69679477-69679478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529135728	chr8:69679490-69679491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549857180	chr8:69679506-69679507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529877079	chr8:69679521-69679522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	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
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69673200-69679800	Weak transcription	HUVEC	blood vessel
2	chr8:69673800-69679800	Weak transcription	Osteobl	bone
3	chr8:69673800-69682000	Weak transcription	HSMMtube	muscle
4	chr8:69674400-69679800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:69674400-69679800	Weak transcription	NHLF	lung
6	chr8:69674800-69682000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:69675200-69686200	Weak transcription	Fetal Lung	lung
8	chr8:69676200-69681000	Enhancers	Hela-S3	cervix
9	chr8:69677000-69679800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:69677000-69680200	Weak transcription	HSMM	muscle
11	chr8:69679800-69680000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:69679800-69680000	Enhancers	Osteobl	bone
13	chr8:69679800-69680400	Enhancers	NHLF	lung
14	chr8:69679800-69680800	Enhancers	HUVEC	blood vessel
15	chr8:69679800-69681200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:69680000-69680400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:69680000-69680400	Weak transcription	Osteobl	bone
18	chr8:69680200-69680600	Enhancers	HSMM	muscle
19	chr8:69680400-69680600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:69680400-69680600	Enhancers	Osteobl	bone
21	chr8:69680400-69682600	Weak transcription	NHLF	lung
22	chr8:69680600-69682000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:69680600-69682600	Weak transcription	HSMM	muscle
24	chr8:69680600-69682600	Weak transcription	Osteobl	bone
25	chr8:69681200-69682600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:69682000-69682200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:69682000-69682200	Enhancers	HSMMtube	muscle
28	chr8:69682000-69683000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:69682200-69682800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:69682600-69683800	Enhancers	NHLF	lung
31	chr8:69682600-69684000	Enhancers	HSMM	muscle
32	chr8:69682600-69684400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr8:69682600-69684400	Enhancers	Osteobl	bone
34	chr8:69682800-69684200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:69682800-69684400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:69683000-69688000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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