Variant report

Variant	esv3479368
Chromosome Location	chr8:64154290-64156126
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	chr8:64147703..64149229-chr8:64153058..64154702,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377541663	chr8:64154308-64154309	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs200798142	chr8:64154325-64154326	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs147563687	chr8:64154370-64154371	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs142598520	chr8:64154393-64154394	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs538225979	chr8:64154444-64154445	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs146909771	chr8:64154461-64154462	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs138957949	chr8:64154464-64154465	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs371073448	chr8:64154469-64154470	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs554350239	chr8:64154471-64154472	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs572304772	chr8:64154504-64154505	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs192649443	chr8:64154575-64154576	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs576235491	chr8:64154613-64154614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201952227	chr8:64154642-64154643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569584974	chr8:64154649-64154650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183213529	chr8:64154650-64154651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73686731	chr8:64154653-64154654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187539676	chr8:64154658-64154659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558961378	chr8:64154751-64154752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368177891	chr8:64154752-64154753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1435459	chr8:64154766-64154767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2043521	chr8:64154790-64154791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs5891893	chr8:64154803-64154804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192348871	chr8:64154804-64154805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541738984	chr8:64154807-64154808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201830067	chr8:64154821-64154822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151234686	chr8:64154824-64154825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2043523	chr8:64154825-64154826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373986040	chr8:64154826-64154827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569267896	chr8:64154827-64154828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559633632	chr8:64154832-64154833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35749623	chr8:64154846-64154847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184299907	chr8:64154918-64154919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372201366	chr8:64154951-64154952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189662911	chr8:64155006-64155007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537118368	chr8:64155027-64155028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182692901	chr8:64155044-64155045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536917374	chr8:64155056-64155057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550150013	chr8:64155088-64155089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571507491	chr8:64155108-64155109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539173690	chr8:64155143-64155144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374380246	chr8:64155163-64155164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143784552	chr8:64155166-64155167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536465283	chr8:64155191-64155192	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64154000-64155000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:64154200-64154600	Flanking Active TSS	HepG2	liver
3	chr8:64154200-64154600	Flanking Active TSS	K562	blood
4	chr8:64155000-64155200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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