Variant report

Variant	esv3342936
Chromosome Location	chr5:58013100-58013564
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	chr14:54976700..54977279-chr5:58013417..58014233,2	MCF-7	breast:
2	chr5:57794206..57795033-chr5:58012774..58013560,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100532	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537437701	chr5:58013130-58013131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542794138	chr5:58013131-58013132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145840154	chr5:58013206-58013207	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs73102351	chr5:58013250-58013251	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs148588861	chr5:58013275-58013276	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs553104488	chr5:58013286-58013287	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs146606856	chr5:58013296-58013297	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs78304335	chr5:58013349-58013350	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs556544305	chr5:58013366-58013367	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs574942588	chr5:58013426-58013427	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545765540	chr5:58013437-58013438	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577922984	chr5:58013486-58013487	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559013948	chr5:58013488-58013489	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141365685	chr5:58013496-58013497	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1035393	chr5:58013514-58013515	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1035394	chr5:58013548-58013549	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
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
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58012000-58013200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:58012000-58013200	Enhancers	Liver	Liver
3	chr5:58012200-58014200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:58012400-58013200	Enhancers	Fetal Lung	lung
5	chr5:58012400-58014000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:58012800-58013200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:58012800-58015800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:58012800-58018800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:58013000-58013400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:58013000-58014000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:58013000-58015000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:58013200-58013600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:58013200-58013600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr5:58013200-58013600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr5:58013200-58013600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr5:58013200-58013600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:58013200-58013800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:58013200-58013800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:58013400-58013600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr5:58013400-58014000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:58013400-58014200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:58013400-58014400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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