Variant report

Variant	esv3353932
Chromosome Location	chr5:105531853-105536151
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	chr5:105529625..105532218-chr5:105532706..105534239,2	K562	blood:
2	chr5:105529625..105532218-chr5:105532706..105534239,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 80 )

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	rs148678348	chr5:105531868-105531869	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs530876225	chr5:105531938-105531939	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs551077212	chr5:105531964-105531965	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs141382849	chr5:105532053-105532054	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs374218296	chr5:105532066-105532067	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs182051483	chr5:105532088-105532089	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs4512107	chr5:105532093-105532094	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566823614	chr5:105532118-105532119	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs80311141	chr5:105532176-105532177	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs538972447	chr5:105532181-105532182	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs376022248	chr5:105532182-105532183	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs528201532	chr5:105532183-105532184	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs571346166	chr5:105532186-105532187	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs558249222	chr5:105532197-105532198	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs187657429	chr5:105532230-105532231	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs537514163	chr5:105532241-105532242	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs150770696	chr5:105532264-105532265	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs574644304	chr5:105532280-105532281	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs139691941	chr5:105532313-105532314	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs145113411	chr5:105532319-105532320	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs558663561	chr5:105532334-105532335	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs370975010	chr5:105532352-105532353	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs147579181	chr5:105532379-105532380	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs546135279	chr5:105532394-105532395	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17142309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105531800-105532400	Active TSS	A549	lung

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