Variant report

Variant	esv1560472
Chromosome Location	chr5:127875570-127875630
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	chr5:127871072..127873305-chr5:127875022..127876615,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58129828	chr5:127875570-127875571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370873425	chr5:127875571-127875572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375059189	chr5:127875575-127875576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368068215	chr5:127875577-127875578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369206042	chr5:127875578-127875579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554412054	chr5:127875585-127875586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56324353	chr5:127875587-127875588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369464316	chr5:127875588-127875589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371483583	chr5:127875591-127875592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61336093	chr5:127875594-127875595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58623723	chr5:127875597-127875598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28570463	chr5:127875598-127875599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56941531	chr5:127875601-127875602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs60256463	chr5:127875608-127875609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58539900	chr5:127875611-127875612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59856436	chr5:127875618-127875619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575641084	chr5:127875624-127875625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Acute lymphoblastic leukemia	22237106	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127875200-127882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:127875400-127882400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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