Variant report

Variant	esv3480539
Chromosome Location	chr8:91410424-91414242
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91409931..91411807-chr8:91452716..91455464,3	MCF-7	breast:
2	chr8:91410167..91412281-chr8:91414519..91417211,3	MCF-7	breast:
3	chr8:91410413..91412914-chr8:91428801..91430946,2	MCF-7	breast:

Extended variants
information (count: 272 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:272 , 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	rs200054098	chr8:91410428-91410429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560206421	chr8:91410431-91410432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558085879	chr8:91410434-91410435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572015281	chr8:91410436-91410437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542683002	chr8:91410439-91410440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560960175	chr8:91410440-91410441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185465390	chr8:91410461-91410462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550144615	chr8:91410496-91410497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565128708	chr8:91410507-91410508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202075323	chr8:91410578-91410579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10087100	chr8:91410604-91410605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551767402	chr8:91410605-91410606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149982915	chr8:91410609-91410610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200916410	chr8:91410640-91410641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111323644	chr8:91410654-91410655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534061872	chr8:91410677-91410678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2206000	chr8:91410688-91410689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192053289	chr8:91410709-91410710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540872254	chr8:91410727-91410728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145533174	chr8:91410730-91410731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577879316	chr8:91410733-91410734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202007542	chr8:91410736-91410737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368642478	chr8:91410744-91410745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200239191	chr8:91410749-91410750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6617152	chr8:91410755-91410756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538267405	chr8:91410765-91410766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553512758	chr8:91410777-91410778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6617153	chr8:91410786-91410787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550611083	chr8:91410798-91410799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571988981	chr8:91410808-91410809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542398662	chr8:91410832-91410833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201535221	chr8:91410849-91410850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561035072	chr8:91410871-91410872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576307077	chr8:91410888-91410889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6623487	chr8:91410905-91410906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573865748	chr8:91410910-91410911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181498852	chr8:91410921-91410922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10103125	chr8:91410930-91410931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs562563539	chr8:91410937-91410938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376903145	chr8:91410938-91410939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376353527	chr8:91410942-91410943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560321709	chr8:91410949-91410950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143564572	chr8:91410963-91410964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187391989	chr8:91410983-91410984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567706796	chr8:91410988-91410989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538062198	chr8:91411014-91411015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191869089	chr8:91411031-91411032	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182346271	chr8:91411043-91411044	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538978702	chr8:91411047-91411048	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554436180	chr8:91411054-91411055	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Autism	22495311	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
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
Acute lymphoblastic leukemia	18458336	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
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91395000-91433400	Weak transcription	K562	blood
2	chr8:91411000-91411800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr8:91411400-91412000	Active TSS	A549	lung
4	chr8:91411600-91412000	Enhancers	Hela-S3	cervix

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