Variant report

Variant	esv3380266
Chromosome Location	chr5:124450441-124450783
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	chr5:124441238..124443626-chr5:124448312..124451103,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376966582	chr5:124450448-124450449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115353124	chr5:124450462-124450463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567540469	chr5:124450497-124450498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12655216	chr5:124450500-124450501	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs374722160	chr5:124450593-124450594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537459680	chr5:124450620-124450621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116434871	chr5:124450654-124450655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568501040	chr5:124450671-124450672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149786274	chr5:124450685-124450686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539563440	chr5:124450699-124450700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73305862	chr5:124450741-124450742	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569953718	chr5:124450749-124450750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551342842	chr5:124450764-124450765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555829266	chr5:124450765-124450766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124445800-124455800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:124448200-124450800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:124448200-124453000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:124448200-124453000	Weak transcription	NHLF	lung
5	chr5:124448400-124453400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:124449200-124454000	Weak transcription	Dnd41	blood
7	chr5:124449600-124450800	Weak transcription	HSMM	muscle
8	chr5:124449800-124450800	Weak transcription	NHDF-Ad	bronchial
9	chr5:124450200-124451400	Enhancers	Liver	Liver
10	chr5:124450600-124451400	Enhancers	HepG2	liver

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