Variant report

Variant	esv3339652
Chromosome Location	chr5:104856203-104858501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533538527	chr5:104856612-104856613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138770641	chr5:104856679-104856680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532571086	chr5:104856699-104856700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569263948	chr5:104856731-104856732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141878776	chr5:104856745-104856746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548948361	chr5:104856850-104856851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7719637	chr5:104856882-104856883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534730240	chr5:104856909-104856910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111770681	chr5:104856933-104856934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148887967	chr5:104856939-104856940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7719488	chr5:104857001-104857002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7723534	chr5:104857017-104857018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556444786	chr5:104857028-104857029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111758967	chr5:104857069-104857070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370748245	chr5:104857074-104857075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190469535	chr5:104857086-104857087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375285566	chr5:104857130-104857131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7736944	chr5:104857140-104857141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563972384	chr5:104857144-104857145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181912223	chr5:104857145-104857146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370523701	chr5:104857177-104857178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184960870	chr5:104857191-104857192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112636001	chr5:104857210-104857211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71593265	chr5:104857212-104857213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375414542	chr5:104857219-104857220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564763151	chr5:104857247-104857248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182303826	chr5:104857249-104857250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs70993951	chr5:104857256-104857257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200356366	chr5:104857270-104857271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546208940	chr5:104857330-104857331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139443156	chr5:104857333-104857334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563572603	chr5:104857338-104857339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs66495995	chr5:104857353-104857354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549036013	chr5:104857367-104857368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11954971	chr5:104857381-104857382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs540755278	chr5:104857443-104857444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149671100	chr5:104857504-104857505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186546025	chr5:104857506-104857507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73776864	chr5:104857532-104857533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113766026	chr5:104857553-104857554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191208790	chr5:104857558-104857559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9285953	chr5:104857562-104857563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555469911	chr5:104857632-104857633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548041759	chr5:104857705-104857706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12656318	chr5:104857729-104857730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576955933	chr5:104857745-104857746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556929540	chr5:104857756-104857757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115659857	chr5:104857769-104857770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557517368	chr5:104857847-104857848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6858938	chr5:104857873-104857874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	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
Obesity	20622171	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104856600-104867600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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