Variant report

Variant	esv3451896
Chromosome Location	chr4:68726764-68727034
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565584052	chr4:68726804-68726805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148863051	chr4:68726819-68726820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3838850	chr4:68726820-68726821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34702150	chr4:68726821-68726822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3037023	chr4:68726822-68726823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201046325	chr4:68726823-68726824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78768579	chr4:68726861-68726862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4582201	chr4:68726885-68726886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9999435	chr4:68726924-68726925	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs371889111	chr4:68726980-68726981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567351121	chr4:68726998-68726999	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Lung cancer	18438408	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
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Depressive disorder	21152026	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:68726800-68727000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:68726800-68727000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:68726800-68727000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:68726800-68727000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:68726800-68727000	Enhancers	NHEK	skin
6	chr4:68726800-68727200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:68727000-68727200	Flanking Active TSS	HMEC	breast
8	chr4:68727000-68727400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:68727000-68727600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:68727000-68727600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:68727000-68727600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:68727000-68727600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:68727000-68727600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:68727000-68727800	Flanking Active TSS	NHEK	skin

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