Variant report

Variant	esv3344575
Chromosome Location	chr8:107985003-107985558
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	chr8:107963274..107965164-chr8:107984156..107985885,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555183337	chr8:107985020-107985021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543296863	chr8:107985033-107985034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186883372	chr8:107985072-107985073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573792047	chr8:107985102-107985103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112068320	chr8:107985118-107985119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573385715	chr8:107985145-107985146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142427662	chr8:107985186-107985187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73699639	chr8:107985187-107985188	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532924520	chr8:107985190-107985191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532721707	chr8:107985220-107985221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377309537	chr8:107985245-107985246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551381609	chr8:107985250-107985251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368638668	chr8:107985297-107985298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564655321	chr8:107985311-107985312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188683912	chr8:107985330-107985331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181249919	chr8:107985331-107985332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568592623	chr8:107985346-107985347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185366665	chr8:107985380-107985381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189735685	chr8:107985451-107985452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111541548	chr8:107985487-107985488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565817574	chr8:107985555-107985556	Enhancers 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
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	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
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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107982400-107985600	Weak transcription	Aorta	Aorta
2	chr8:107985000-107986000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:107985000-107986000	Enhancers	NHDF-Ad	bronchial
4	chr8:107985200-107986000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:107985200-107987600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:107985400-107986600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:107985400-107987800	Enhancers	HSMMtube	muscle

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