Variant report

Variant	esv3436134
Chromosome Location	chr8:111899401-111901949
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	chr1:225202258..225204234-chr8:111898982..111900583,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558949763	chr8:111901029-111901030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368192342	chr8:111901069-111901070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568969805	chr8:111901086-111901087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62520665	chr8:111901091-111901092	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554713277	chr8:111901099-111901100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574705513	chr8:111901110-111901111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540853513	chr8:111901197-111901198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79208764	chr8:111901198-111901199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143614647	chr8:111901443-111901444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537911860	chr8:111901471-111901472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554625440	chr8:111901514-111901515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151017697	chr8:111901524-111901525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548742908	chr8:111901547-111901548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75901928	chr8:111901590-111901591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73700784	chr8:111901591-111901592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565296834	chr8:111901606-111901607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191748880	chr8:111901632-111901633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540132372	chr8:111901647-111901648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112760933	chr8:111901661-111901662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369056571	chr8:111901806-111901807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114975864	chr8:111901855-111901856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541880889	chr8:111901868-111901869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561745938	chr8:111901935-111901936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117763933	chr8:111901941-111901942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Glioblastoma multiforme	21080181	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
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
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111901000-111901200	Enhancers	Fetal Muscle Trunk	muscle
2	chr8:111901400-111902400	Weak transcription	Fetal Muscle Trunk	muscle

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