Variant report

Variant	esv3345465
Chromosome Location	chr4:15893953-15894026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151304459	chr4:15893953-15893954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369087684	chr4:15893955-15893956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551559749	chr4:15893956-15893957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2531159	chr4:15893958-15893959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28436988	chr4:15893968-15893969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4361381	chr4:15893970-15893971	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs12508006	chr4:15893976-15893977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12503193	chr4:15893978-15893979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28398803	chr4:15893986-15893987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28742026	chr4:15893992-15893993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138644435	chr4:15894002-15894003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146951818	chr4:15894003-15894004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28385405	chr4:15894004-15894005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184705389	chr4:15894011-15894012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538871655	chr4:15894015-15894016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552390619	chr4:15894016-15894017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565915610	chr4:15894017-15894018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534461254	chr4:15894018-15894019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15892800-15894000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:15893000-15896000	Enhancers	NHEK	skin
3	chr4:15893400-15894000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:15893400-15898600	Enhancers	HMEC	breast
5	chr4:15893600-15894600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:15893600-15894600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:15893600-15894600	Weak transcription	Esophagus	oesophagus
8	chr4:15893600-15896200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:15893800-15894200	Weak transcription	Hela-S3	cervix
10	chr4:15893800-15894600	Weak transcription	A549	lung
11	chr4:15893800-15896200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr4:15894000-15894400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:15894000-15894400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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