Variant report

Variant	esv3421467
Chromosome Location	chr8:87209927-87211842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87190469..87192191-chr8:87210663..87212770,3	MCF-7	breast:
2	chr8:87186174..87188770-chr8:87209763..87212500,2	MCF-7	breast:
3	chr8:87211551..87214169-chr8:87359598..87362232,2	MCF-7	breast:
4	chr8:87209540..87217164-chr8:87352654..87357387,21	MCF-7	breast:
5	chr8:87211087..87213298-chr8:87310903..87313081,2	MCF-7	breast:
6	chr8:87207725..87209616-chr8:87210524..87212253,2	MCF-7	breast:
7	chr8:87209043..87216417-chr8:87353545..87356851,10	MCF-7	breast:
8	chr8:87159966..87161535-chr8:87210569..87213255,2	MCF-7	breast:
9	chr8:87185465..87188007-chr8:87211775..87213428,2	MCF-7	breast:
10	chr8:87194678..87197306-chr8:87210652..87213144,4	MCF-7	breast:
11	chr8:87198044..87200373-chr8:87209574..87213892,4	MCF-7	breast:
12	chr8:87207485..87210641-chr8:87212300..87214518,4	MCF-7	breast:
13	chr8:87210841..87213760-chr8:87426169..87428047,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123124	chromatin interactions
ENSG00000254231	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558089041	chr8:87209985-87209986	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs76665428	chr8:87209987-87209988	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543261345	chr8:87209988-87209989	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs182530056	chr8:87210027-87210028	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs528691748	chr8:87210048-87210049	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551943788	chr8:87210072-87210073	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs186866388	chr8:87210088-87210089	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs139533730	chr8:87210113-87210114	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs577080312	chr8:87210149-87210150	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs565360862	chr8:87210150-87210151	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs530836488	chr8:87210165-87210166	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs191351121	chr8:87210182-87210183	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs567464859	chr8:87210193-87210194	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs11787431	chr8:87210214-87210215	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs528783841	chr8:87210240-87210241	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs184209386	chr8:87210246-87210247	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs111463458	chr8:87210247-87210248	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs77437524	chr8:87210256-87210257	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs538840842	chr8:87210257-87210258	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs79272770	chr8:87210258-87210259	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs367637980	chr8:87210273-87210274	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs79118995	chr8:87210277-87210278	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs60990087	chr8:87210389-87210390	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs543187614	chr8:87210395-87210396	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs139895672	chr8:87210396-87210397	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs57854010	chr8:87210399-87210400	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs116444216	chr8:87210414-87210415	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs574398319	chr8:87210435-87210436	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs543387535	chr8:87210537-87210538	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs560076361	chr8:87210543-87210544	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs142186691	chr8:87210627-87210628	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs62512389	chr8:87210658-87210659	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201817697	chr8:87210660-87210661	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs7833914	chr8:87210666-87210667	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs74878209	chr8:87210678-87210679	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs530999036	chr8:87210705-87210706	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs370998280	chr8:87210712-87210713	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs547414526	chr8:87210737-87210738	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs7829828	chr8:87210749-87210750	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs7822878	chr8:87210757-87210758	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs7834067	chr8:87210759-87210760	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs561288515	chr8:87210830-87210831	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs530034681	chr8:87210842-87210843	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs386727431	chr8:87210980-87210981	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs12115123	chr8:87210982-87210983	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532205185	chr8:87210987-87210988	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs552323802	chr8:87211057-87211058	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs151168436	chr8:87211064-87211065	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs7813148	chr8:87211078-87211079	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs139107645	chr8:87211123-87211124	Inactive region	Chromatin interactive region	2 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
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
Rett syndrome	21593744	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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