Variant report

Variant	esv1823154
Chromosome Location	chr5:104811052-104821868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:42792470..42793145-chr5:104821622..104822504,2	MCF-7	breast:
2	chr5:104805339..104808156-chr5:104810446..104813222,2	MCF-7	breast:
3	chr5:104810915..104813579-chr5:104817384..104819206,2	MCF-7	breast:
4	chr5:104810915..104813579-chr5:104817384..104819206,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132874	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534396514	chr5:104811600-104811601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs149699778	chr5:104811609-104811610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs4373259	chr5:104811617-104811618	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532212995	chr5:104811629-104811630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs574243748	chr5:104811664-104811665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs193293846	chr5:104811690-104811691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs367744160	chr5:104811706-104811707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs531255415	chr5:104811708-104811709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs114943024	chr5:104811792-104811793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs190494256	chr5:104817621-104817622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547857693	chr5:104817633-104817634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547702027	chr5:104817668-104817669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570988002	chr5:104817672-104817673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573834180	chr5:104817683-104817684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180867536	chr5:104817712-104817713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556565183	chr5:104817743-104817744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183938874	chr5:104817760-104817761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13169415	chr5:104817778-104817779	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556570815	chr5:104817788-104817789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554614878	chr5:104817793-104817794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4703344	chr5:104817801-104817802	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540087857	chr5:104817803-104817804	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs144961220	chr5:104817826-104817827	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs576501768	chr5:104817856-104817857	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545508651	chr5:104817859-104817860	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs562102397	chr5:104817872-104817873	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs13187947	chr5:104817877-104817878	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542504477	chr5:104817891-104817892	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs115996110	chr5:104817925-104817926	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs56328905	chr5:104817969-104817970	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs147927987	chr5:104817975-104817976	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs13154124	chr5:104818046-104818047	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs148993727	chr5:104818048-104818049	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs188517303	chr5:104818068-104818069	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs533425757	chr5:104818093-104818094	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs143685881	chr5:104818150-104818151	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs545288046	chr5:104818155-104818156	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs560470762	chr5:104818160-104818161	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs183318712	chr5:104820043-104820044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528457283	chr5:104820054-104820055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545026377	chr5:104820127-104820128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188108597	chr5:104820194-104820195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554068335	chr5:104820206-104820207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533019074	chr5:104820214-104820215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193063259	chr5:104820218-104820219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569747770	chr5:104820241-104820242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572292037	chr5:104820269-104820270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529129116	chr5:104820292-104820293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548788125	chr5:104820301-104820302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530423693	chr5:104820317-104820318	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104811600-104811800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:104817600-104817800	Enhancers	Liver	Liver
3	chr5:104817800-104818200	Active TSS	Liver	Liver
4	chr5:104820000-104820600	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links