Variant report

Variant	esv11525
Chromosome Location	chr8:87671249-87672604
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	chr8:87668814..87670322-chr8:87672192..87674304,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221137	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574641663	chr8:87671280-87671281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs3779795	chr8:87671281-87671282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553158722	chr8:87671298-87671299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556955080	chr8:87671314-87671315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144812740	chr8:87671367-87671368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557541609	chr8:87671368-87671369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575474244	chr8:87671371-87671372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367820121	chr8:87671378-87671379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3779794	chr8:87671396-87671397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs564468566	chr8:87671420-87671421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576393708	chr8:87671421-87671422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541043527	chr8:87671439-87671440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559137640	chr8:87671489-87671490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545886740	chr8:87671577-87671578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529802809	chr8:87671596-87671597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541597730	chr8:87671605-87671606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78354724	chr8:87671685-87671686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377165281	chr8:87671687-87671688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145410320	chr8:87671691-87671692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147274118	chr8:87671738-87671739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140685238	chr8:87671765-87671766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142281407	chr8:87671846-87671847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185839925	chr8:87671849-87671850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568422401	chr8:87671856-87671857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535935546	chr8:87671900-87671901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115027349	chr8:87671934-87671935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569087970	chr8:87671952-87671953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539659009	chr8:87671989-87671990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541242526	chr8:87671993-87671994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563405003	chr8:87672230-87672231	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530691823	chr8:87672249-87672250	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs78878760	chr8:87672250-87672251	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs1009574	chr8:87672258-87672259	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528398553	chr8:87672261-87672262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190365041	chr8:87672306-87672307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs193190366	chr8:87672353-87672354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs3824163	chr8:87672378-87672379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550646746	chr8:87672389-87672390	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs114757210	chr8:87672438-87672439	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs539597636	chr8:87672449-87672450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs557938001	chr8:87672469-87672470	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs112024502	chr8:87672492-87672493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375201091	chr8:87672494-87672495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs79219872	chr8:87672539-87672540	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs548478144	chr8:87672558-87672559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs76088268	chr8:87672598-87672599	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
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
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
Autism	20841430	CNVD
Breast cancer	21364760	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
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Prostate cancer	20978177	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87669400-87672000	Enhancers	Pancreas	Pancrea

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