Variant report

Variant	esv3471342
Chromosome Location	chr5:119910227-119910832
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	chr5:119906837..119908623-chr5:119910419..119912812,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530665091	chr5:119910282-119910283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550760097	chr5:119910303-119910304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544864461	chr5:119910305-119910306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192787982	chr5:119910314-119910315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184240453	chr5:119910317-119910318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143695680	chr5:119910318-119910319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566163452	chr5:119910320-119910321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535059260	chr5:119910336-119910337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2177606	chr5:119910380-119910381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2177607	chr5:119910382-119910383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189350493	chr5:119910385-119910386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574780694	chr5:119910397-119910398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535013144	chr5:119910398-119910399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551912055	chr5:119910407-119910408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562948024	chr5:119910409-119910410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541209087	chr5:119910429-119910430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577341341	chr5:119910472-119910473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546295813	chr5:119910520-119910521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80013225	chr5:119910530-119910531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545267962	chr5:119910567-119910568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573303990	chr5:119910594-119910595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10440773	chr5:119910613-119910614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562003094	chr5:119910640-119910641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530837400	chr5:119910692-119910693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192570456	chr5:119910726-119910727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Colorectal cancer	16272173	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
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119904800-119913200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:119904800-119931200	Weak transcription	Osteobl	bone
3	chr5:119905000-119925800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:119905600-119934600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:119907800-119934800	Weak transcription	HSMM	muscle
6	chr5:119908000-119919400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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