Variant report

Variant	esv3349319
Chromosome Location	chr8:115041825-115068349
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	chr17:58590060..58590787-chr8:115060352..115060949,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270553	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 99 )

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	rs9283948	chr8:115060355-115060356	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539328604	chr8:115060359-115060360	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186494704	chr8:115060360-115060361	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs143247764	chr8:115060405-115060406	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs35294800	chr8:115060415-115060416	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538468306	chr8:115060448-115060449	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148315309	chr8:115060469-115060470	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551783795	chr8:115060473-115060474	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201340637	chr8:115060501-115060502	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191383472	chr8:115060535-115060536	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183831634	chr8:115060561-115060562	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530718711	chr8:115060635-115060636	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs530625368	chr8:115060651-115060652	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs10113371	chr8:115060723-115060724	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs567390686	chr8:115060783-115060784	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187936611	chr8:115060795-115060796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546318824	chr8:115060838-115060839	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566216544	chr8:115060855-115060856	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570433120	chr8:115060891-115060892	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs578081465	chr8:115060899-115060900	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368013056	chr8:115060911-115060912	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs75031054	chr8:115060921-115060922	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535066696	chr8:115060932-115060933	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537351726	chr8:115061005-115061006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141471907	chr8:115061034-115061035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112788275	chr8:115061037-115061038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532745059	chr8:115061097-115061098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574197870	chr8:115061120-115061121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs58686599	chr8:115061142-115061143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs13255312	chr8:115061150-115061151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150455864	chr8:115061161-115061162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182124315	chr8:115061188-115061189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565289728	chr8:115061189-115061190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138296025	chr8:115061250-115061251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544227922	chr8:115061256-115061257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561216745	chr8:115061288-115061289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529884447	chr8:115061324-115061325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73336808	chr8:115061329-115061330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554729621	chr8:115061338-115061339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12156026	chr8:115061414-115061415	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs72679669	chr8:115061417-115061418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369727733	chr8:115061436-115061437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144080210	chr8:115061464-115061465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537843744	chr8:115061469-115061470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186557602	chr8:115061567-115061568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567932014	chr8:115061580-115061581	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115061000-115061400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr8:115061000-115061600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:115061200-115061600	Enhancers	HUES48 Cell Line	embryonic stem cell

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