Variant report

Variant	esv2610995
Chromosome Location	chr8:89391109-89392856
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	chr8:89374551..89376756-chr8:89391523..89393608,2	MCF-7	breast:
2	chr8:89389126..89391030-chr8:89391049..89394104,3	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116251670	chr8:89391114-89391115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1504802	chr8:89391115-89391116	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs201377790	chr8:89391148-89391149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189284828	chr8:89391213-89391214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147309935	chr8:89391250-89391251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544587348	chr8:89391251-89391252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79611180	chr8:89391310-89391311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181951770	chr8:89391316-89391317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4434662	chr8:89391354-89391355	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs534122792	chr8:89391375-89391376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185182534	chr8:89391394-89391395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572993801	chr8:89391446-89391447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540504016	chr8:89391476-89391477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149799127	chr8:89391506-89391507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1463922	chr8:89391509-89391510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550120976	chr8:89391530-89391531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188374773	chr8:89391539-89391540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180991799	chr8:89391553-89391554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145739372	chr8:89391558-89391559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567041630	chr8:89391559-89391560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530574000	chr8:89391562-89391563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371666423	chr8:89391570-89391571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567924085	chr8:89391606-89391607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10504843	chr8:89391652-89391653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs186458032	chr8:89391659-89391660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577994591	chr8:89391661-89391662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191356517	chr8:89391745-89391746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148512427	chr8:89391751-89391752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375019021	chr8:89391765-89391766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183676291	chr8:89391794-89391795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144188008	chr8:89391804-89391805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540020616	chr8:89391843-89391844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1463923	chr8:89391848-89391849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs186758705	chr8:89391916-89391917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190721794	chr8:89391928-89391929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562137240	chr8:89391933-89391934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532825707	chr8:89391943-89391944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551436052	chr8:89391952-89391953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567947391	chr8:89391992-89391993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527394440	chr8:89391995-89391996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561406006	chr8:89392021-89392022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549555900	chr8:89392032-89392033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567859952	chr8:89392033-89392034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538535304	chr8:89392094-89392095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183327317	chr8:89392100-89392101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535576227	chr8:89392119-89392120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186555967	chr8:89392129-89392130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4961093	chr8:89392132-89392133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs191191147	chr8:89392133-89392134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572409506	chr8:89392140-89392141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89380600-89394800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:89389400-89392800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:89390400-89391200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:89390800-89391400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr8:89391200-89393000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:89392800-89393000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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