Variant report

Variant	esv1982084
Chromosome Location	chr4:76479496-76480187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17000639	chr4:76479502-76479503	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532008638	chr4:76479568-76479569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372028519	chr4:76479576-76479577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17000640	chr4:76479587-76479588	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs146593841	chr4:76479592-76479593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564251025	chr4:76479616-76479617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569216596	chr4:76479626-76479627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183847282	chr4:76479673-76479674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62318655	chr4:76479712-76479713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371130559	chr4:76479737-76479738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200696432	chr4:76479760-76479761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11728930	chr4:76479785-76479786	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs56971713	chr4:76479861-76479862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs116029688	chr4:76479894-76479895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2061741	chr4:76479966-76479967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188817747	chr4:76479977-76479978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191516372	chr4:76479983-76479984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567116237	chr4:76479993-76479994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183370876	chr4:76480049-76480050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553010227	chr4:76480072-76480073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536370855	chr4:76480095-76480096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377018927	chr4:76480124-76480125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548146363	chr4:76480158-76480159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76458400-76480800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr4:76458800-76480600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr4:76458800-76480600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:76465800-76480600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:76468400-76480800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:76469200-76480200	Weak transcription	NHEK	skin
7	chr4:76470600-76480600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:76471200-76480400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:76471800-76480800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:76472400-76480400	Weak transcription	HMEC	breast
11	chr4:76473200-76480400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:76473600-76480600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:76474800-76480800	Weak transcription	HSMMtube	muscle
14	chr4:76475000-76480200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:76479200-76479800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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