Variant report

Variant	esv3388218
Chromosome Location	chr8:53862899-53867297
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	chr8:53649723..53650709-chr8:53861922..53862952,3	MCF-7	breast:
2	chr8:53634696..53637064-chr8:53861267..53863053,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271555	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147066128	chr8:53862939-53862940	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138265963	chr8:53862957-53862958	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs113319034	chr8:53862966-53862967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531604292	chr8:53863001-53863002	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs550099375	chr8:53863033-53863034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534526010	chr8:53865601-53865602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs142457105	chr8:53865604-53865605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs191445344	chr8:53865605-53865606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs112030186	chr8:53865642-53865643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs539922	chr8:53865647-53865648	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs112678207	chr8:53865658-53865659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs548570564	chr8:53865679-53865680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs566797328	chr8:53865682-53865683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs367706924	chr8:53865693-53865694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs546274791	chr8:53865707-53865708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs111439461	chr8:53865708-53865709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs374823380	chr8:53865713-53865714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs537992978	chr8:53865714-53865715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs555988251	chr8:53865717-53865718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs368101787	chr8:53865757-53865758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs541439156	chr8:53865765-53865766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs553323330	chr8:53865766-53865767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs386725401	chr8:53865777-53865778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs117805592	chr8:53865778-53865779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs117969788	chr8:53865782-53865783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs112396553	chr8:53865791-53865792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs544752778	chr8:53865794-53865795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs113121486	chr8:53865797-53865798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs530191812	chr8:53865867-53865868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs367687915	chr8:53865874-53865875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs692929	chr8:53865879-53865880	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566856863	chr8:53865882-53865883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs35794742	chr8:53865883-53865884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs527624861	chr8:53865884-53865885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs144739897	chr8:53865890-53865891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs570679694	chr8:53865894-53865895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs537652785	chr8:53865897-53865898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs556288251	chr8:53865918-53865919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs183770013	chr8:53865919-53865920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs535155117	chr8:53865932-53865933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs533985652	chr8:53865937-53865938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs187321617	chr8:53865985-53865986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs191733654	chr8:53866009-53866010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs185292527	chr8:53866012-53866013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs66556025	chr8:53866055-53866056	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs544504587	chr8:53866058-53866059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs77610612	chr8:53866093-53866094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs117247670	chr8:53866110-53866111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs374083206	chr8:53866129-53866130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs542334012	chr8:53866131-53866132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	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
Salivary gland tumor	18059337	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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:53865600-53866800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:53866400-53866600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:53866400-53866800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:53866400-53866800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:53866600-53867600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:53866800-53868400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:53866800-53868600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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