Variant report

Variant	esv2585539
Chromosome Location	chr5:105733451-105735030
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	chr5:105678713..105680256-chr5:105733390..105735536,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577924107	chr5:105733481-105733482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181551818	chr5:105733499-105733500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563791950	chr5:105733572-105733573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529453208	chr5:105733577-105733578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543218670	chr5:105733639-105733640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186214515	chr5:105733683-105733684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145934008	chr5:105733691-105733692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78617356	chr5:105733707-105733708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571848551	chr5:105733720-105733721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530519125	chr5:105733735-105733736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191025081	chr5:105733783-105733784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550353043	chr5:105733789-105733790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567333996	chr5:105733798-105733799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535977028	chr5:105733843-105733844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115532269	chr5:105733848-105733849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183542108	chr5:105733862-105733863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11744264	chr5:105733880-105733881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538451510	chr5:105733895-105733896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558777818	chr5:105733904-105733905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575487785	chr5:105733922-105733923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187431902	chr5:105733927-105733928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557102329	chr5:105733930-105733931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190593761	chr5:105733949-105733950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574162804	chr5:105733956-105733957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182933837	chr5:105733960-105733961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559907710	chr5:105733961-105733962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10061279	chr5:105734017-105734018	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs545280365	chr5:105734024-105734025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373196011	chr5:105734085-105734086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544862296	chr5:105734089-105734090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556584056	chr5:105734096-105734097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192980471	chr5:105734251-105734252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182797250	chr5:105734258-105734259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187522646	chr5:105734339-105734340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112729490	chr5:105734414-105734415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566888115	chr5:105734429-105734430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529665289	chr5:105734438-105734439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546245008	chr5:105734442-105734443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577930080	chr5:105734451-105734452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7720454	chr5:105734479-105734480	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558516152	chr5:105734500-105734501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114823281	chr5:105734511-105734512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192448017	chr5:105734515-105734516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554458154	chr5:105734540-105734541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184545845	chr5:105734541-105734542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574054699	chr5:105734621-105734622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536649592	chr5:105734630-105734631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560211464	chr5:105734640-105734641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13181381	chr5:105734643-105734644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553461196	chr5:105734700-105734701	Weak transcription Enhancers	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105732000-105735400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:105732000-105735800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:105732800-105734000	Enhancers	HUVEC	blood vessel
4	chr5:105732800-105734200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:105732800-105735800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:105732800-105735800	Enhancers	Osteobl	bone
7	chr5:105732800-105736000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:105733000-105734200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:105733000-105734600	Enhancers	NHDF-Ad	bronchial
10	chr5:105733000-105736000	Enhancers	NHEK	skin
11	chr5:105733200-105733600	Enhancers	NH-A	brain
12	chr5:105733200-105733800	Enhancers	HSMMtube	muscle
13	chr5:105733200-105734400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:105733200-105735800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:105733400-105733600	Enhancers	A549	lung
16	chr5:105733400-105733800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:105733400-105734000	Weak transcription	HMEC	breast
18	chr5:105733600-105734800	Weak transcription	NH-A	brain
19	chr5:105733800-105735200	Weak transcription	HSMMtube	muscle
20	chr5:105734000-105734200	Enhancers	HMEC	breast
21	chr5:105734000-105735000	Weak transcription	HUVEC	blood vessel
22	chr5:105734200-105735000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:105734200-105735000	Weak transcription	HMEC	breast
24	chr5:105734400-105735600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:105734600-105735000	Weak transcription	NHDF-Ad	bronchial
26	chr5:105734800-105735800	Enhancers	NH-A	brain
27	chr5:105735000-105735800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:105735000-105735800	Enhancers	HUVEC	blood vessel
29	chr5:105735000-105735800	Enhancers	NHDF-Ad	bronchial
30	chr5:105735000-105736000	Enhancers	HMEC	breast

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