Variant report

Variant	esv3382574
Chromosome Location	chr5:44929345-44931518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183665048	chr5:44929437-44929438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528050257	chr5:44929451-44929452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551093973	chr5:44929495-44929496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564635084	chr5:44929646-44929647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530553757	chr5:44929663-44929664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550739106	chr5:44929752-44929753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570249643	chr5:44929799-44929800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567491323	chr5:44929801-44929802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12109710	chr5:44929928-44929929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs547229535	chr5:44929972-44929973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10941688	chr5:44930005-44930006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539017980	chr5:44930034-44930035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559030468	chr5:44930053-44930054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536412645	chr5:44930109-44930110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376866983	chr5:44930134-44930135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575795503	chr5:44930139-44930140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556265260	chr5:44930191-44930192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574600248	chr5:44930221-44930222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555124503	chr5:44930230-44930231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10054773	chr5:44930234-44930235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs542468288	chr5:44930320-44930321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189341655	chr5:44930330-44930331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573102320	chr5:44930343-44930344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544979660	chr5:44930384-44930385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181287416	chr5:44930442-44930443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530446054	chr5:44930482-44930483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186340001	chr5:44930530-44930531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111427086	chr5:44930595-44930596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530265624	chr5:44930606-44930607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151128896	chr5:44930630-44930631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190176832	chr5:44930641-44930642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34475196	chr5:44930695-44930696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141414818	chr5:44930706-44930707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10063172	chr5:44930709-44930710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs181532718	chr5:44930767-44930768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145139338	chr5:44930784-44930785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186548660	chr5:44930836-44930837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555061037	chr5:44930842-44930843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568465711	chr5:44930941-44930942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191100573	chr5:44930944-44930945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552933614	chr5:44931024-44931025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs137884250	chr5:44931042-44931043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544875953	chr5:44931044-44931045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116014033	chr5:44931071-44931072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10473376	chr5:44931228-44931229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs10473377	chr5:44931246-44931247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs561033152	chr5:44931252-44931253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76321806	chr5:44931263-44931264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531377443	chr5:44931264-44931265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540802705	chr5:44931353-44931354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44929200-44929600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:44929600-44931400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:44931400-44931600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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