Variant report

Variant	esv3329456
Chromosome Location	chr5:93246634-93247086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:93244160..93246967-chr5:93249582..93251706,2	MCF-7	breast:
2	chr5:93227743..93229810-chr5:93246414..93248576,2	K562	blood:
3	chr5:93241718..93244108-chr5:93244950..93247843,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553213169	chr5:93246673-93246674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573194519	chr5:93246702-93246703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542447415	chr5:93246751-93246752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144553391	chr5:93246760-93246761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2123455	chr5:93246855-93246856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12108870	chr5:93246887-93246888	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543943392	chr5:93246928-93246929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529884208	chr5:93246993-93246994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191428517	chr5:93247006-93247007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532916008	chr5:93247020-93247021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546919538	chr5:93247032-93247033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566819906	chr5:93247033-93247034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371838993	chr5:93247062-93247063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546842242	chr5:93247066-93247067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93194200-93307600	Weak transcription	Left Ventricle	heart
2	chr5:93213000-93256400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:93226800-93269600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:93228000-93266600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:93230600-93250800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:93246200-93250000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:93246600-93249400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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