Variant report

Variant	esv2602056
Chromosome Location	chr5:108594448-108601760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:108592899..108594623-chr5:108600465..108602761,2	K562	blood:
2	chr5:108588035..108590864-chr5:108591937..108595459,4	K562	blood:
3	chr5:108592899..108594623-chr5:108600465..108602761,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181034417	chr5:108594513-108594514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575888788	chr5:108594568-108594569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368832257	chr5:108594570-108594571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546443990	chr5:108594571-108594572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371410222	chr5:108594580-108594581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374799403	chr5:108594615-108594616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139182126	chr5:108594627-108594628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149516048	chr5:108594635-108594636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144017716	chr5:108594713-108594714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115017116	chr5:108594753-108594754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148647397	chr5:108594776-108594777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116300826	chr5:108594789-108594790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143258569	chr5:108594796-108594797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375014827	chr5:108594806-108594807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530590701	chr5:108594841-108594842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563561638	chr5:108594858-108594859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551969662	chr5:108594862-108594863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570371609	chr5:108594943-108594944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114942389	chr5:108594967-108594968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146678874	chr5:108594973-108594974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187113183	chr5:108594983-108594984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568352506	chr5:108594988-108594989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139097040	chr5:108595019-108595020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557465173	chr5:108595028-108595029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58008430	chr5:108595048-108595049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs10038338	chr5:108595103-108595104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558390367	chr5:108595161-108595162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10043924	chr5:108595181-108595182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545972790	chr5:108595293-108595294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371918057	chr5:108597919-108597920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374976736	chr5:108597940-108597941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368990100	chr5:108597941-108597942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372369652	chr5:108597986-108597987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376648751	chr5:108598150-108598151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201089705	chr5:108598212-108598213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202235851	chr5:108598215-108598216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113017939	chr5:108599903-108599904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113902361	chr5:108599992-108599993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540561743	chr5:108600127-108600128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200200376	chr5:108600558-108600559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200874786	chr5:108600568-108600569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550945514	chr5:108600969-108600970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71626612	chr5:108600974-108600975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374944718	chr5:108601106-108601107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199833330	chr5:108601107-108601108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369967034	chr5:108601124-108601125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75391304	chr5:108601138-108601139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541445430	chr5:108601141-108601142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190726840	chr5:108601159-108601160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530530177	chr5:108601214-108601215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108586000-108606000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:108594200-108601600	Weak transcription	Pancreas	Pancrea
3	chr5:108594800-108595000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:108601600-108601800	ZNF genes & repeats	Pancreas	Pancrea

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