Variant report

Variant	esv17785
Chromosome Location	chr8:99357214-99359367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99347365..99349416-chr8:99356232..99359153,2	K562	blood:
2	chr8:99357983..99360443-chr8:99366615..99368148,2	MCF-7	breast:
3	chr8:99351707..99353474-chr8:99355817..99358709,2	MCF-7	breast:
4	chr8:99344297..99345235-chr8:99357703..99358227,2	MCF-7	breast:
5	chr8:99348334..99350137-chr8:99356726..99359108,2	MCF-7	breast:
6	chr8:99356606..99360601-chr8:99368413..99371833,4	MCF-7	breast:
7	chr8:99304773..99308410-chr8:99356303..99359323,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104361	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10096079	chr8:99357305-99357306	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568293251	chr8:99357310-99357311	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs112016007	chr8:99357350-99357351	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530067025	chr8:99357406-99357407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs73701189	chr8:99357490-99357491	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564854868	chr8:99357499-99357500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs28712345	chr8:99357527-99357528	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376500145	chr8:99357612-99357613	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576586175	chr8:99357647-99357648	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs62524227	chr8:99357751-99357752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192069732	chr8:99357752-99357753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539109606	chr8:99357756-99357757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558971312	chr8:99357763-99357764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558928515	chr8:99357806-99357807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11783294	chr8:99357812-99357813	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs184471018	chr8:99357864-99357865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373175694	chr8:99357893-99357894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11784029	chr8:99357924-99357925	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189161916	chr8:99357961-99357962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10955166	chr8:99357969-99357970	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532098526	chr8:99358001-99358002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs77920893	chr8:99358060-99358061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559309560	chr8:99358124-99358125	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528071101	chr8:99358134-99358135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570097196	chr8:99358147-99358148	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182134278	chr8:99358191-99358192	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568347888	chr8:99358211-99358212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552116001	chr8:99358233-99358234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs550818882	chr8:99358261-99358262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549882466	chr8:99358292-99358293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368212022	chr8:99358333-99358334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539147858	chr8:99358343-99358344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534962650	chr8:99358373-99358374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373030181	chr8:99358427-99358428	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370522144	chr8:99358457-99358458	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs148630308	chr8:99358469-99358470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs144335959	chr8:99358482-99358483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184332292	chr8:99358483-99358484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs574768761	chr8:99358508-99358509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34409839	chr8:99358513-99358514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569710840	chr8:99358514-99358515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs398008978	chr8:99358529-99358530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs543679022	chr8:99358562-99358563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557148255	chr8:99358573-99358574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576982518	chr8:99358672-99358673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545930831	chr8:99358710-99358711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559175332	chr8:99358760-99358761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs79660242	chr8:99358834-99358835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs77361008	chr8:99358877-99358878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs147767289	chr8:99358925-99358926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
head and neck squamous cell carcinoma	19451471	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
Breast cancer	21611746	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99354200-99368200	Weak transcription	NHDF-Ad	bronchial
2	chr8:99354600-99369000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:99356000-99361400	Weak transcription	Ovary	ovary

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