Variant report

Variant	esv2763478
Chromosome Location	chr5:103444130-103452206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:103445190..103447987-chr5:103454013..103455945,2	K562	blood:
2	chr5:103438292..103439842-chr5:103445545..103447443,2	MCF-7	breast:
3	chr5:102976878..102978536-chr5:103450055..103452229,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372678983	chr5:103446612-103446613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142742256	chr5:103446672-103446673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553648445	chr5:103446721-103446722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201896084	chr5:103446723-103446724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201387780	chr5:103446730-103446731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79053358	chr5:103446734-103446735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529935010	chr5:103446747-103446748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73775530	chr5:103446781-103446782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567003743	chr5:103446785-103446786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143874037	chr5:103446841-103446842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71593280	chr5:103446844-103446845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538646568	chr5:103446848-103446849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558957562	chr5:103446857-103446858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569161113	chr5:103446871-103446872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376945489	chr5:103446908-103446909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11957443	chr5:103446917-103446918	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs574666289	chr5:103447063-103447064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115964260	chr5:103447068-103447069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192914257	chr5:103447151-103447152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183615617	chr5:103447152-103447153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544777943	chr5:103447169-103447170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7725285	chr5:103447183-103447184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142301140	chr5:103447200-103447201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576518407	chr5:103447221-103447222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544489153	chr5:103447253-103447254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543423427	chr5:103447274-103447275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565573906	chr5:103447275-103447276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529898294	chr5:103447340-103447341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376229575	chr5:103447376-103447377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532654987	chr5:103447448-103447449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566849480	chr5:103447478-103447479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532592111	chr5:103447495-103447496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188156340	chr5:103447541-103447542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559267760	chr5:103447546-103447547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548059336	chr5:103447572-103447573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78016808	chr5:103447584-103447585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192863954	chr5:103447689-103447690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568450869	chr5:103447700-103447701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377484195	chr5:103447710-103447711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559566595	chr5:103447716-103447717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150985997	chr5:103447732-103447733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577373070	chr5:103447744-103447745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538690097	chr5:103447777-103447778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139363933	chr5:103447794-103447795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375937673	chr5:103447795-103447796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558389404	chr5:103447796-103447797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10601014	chr5:103450416-103450417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373374244	chr5:103450417-103450418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201817271	chr5:103450418-103450419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527438929	chr5:103450425-103450426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Myelofibrosis	22110671	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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103446600-103447200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:103447000-103447600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:103447000-103447800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr5:103450400-103457600	Weak transcription	K562	blood
5	chr5:103452000-103452600	Enhancers	HUVEC	blood vessel

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