Variant report

Variant	esv3467395
Chromosome Location	chr4:141926840-141927313
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545169128	chr4:141926842-141926843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs56338728	chr4:141926865-141926866	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547364659	chr4:141926875-141926876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559293603	chr4:141926888-141926889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59850910	chr4:141926924-141926925	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182733830	chr4:141926938-141926939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549852950	chr4:141926960-141926961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548621493	chr4:141927003-141927004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371487604	chr4:141927018-141927019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376032564	chr4:141927037-141927038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4956340	chr4:141927077-141927078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370693150	chr4:141927092-141927093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187676987	chr4:141927146-141927147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552537045	chr4:141927159-141927160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs57374984	chr4:141927166-141927167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547110562	chr4:141927179-141927180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs61327672	chr4:141927202-141927203	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs370503215	chr4:141927222-141927223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565955965	chr4:141927241-141927242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553727702	chr4:141927260-141927261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:141920200-141933200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:141920400-141937800	Weak transcription	Right Ventricle	heart
3	chr4:141924200-141927400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:141924200-141932400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:141924400-141929000	Enhancers	Fetal Heart	heart
6	chr4:141924600-141927600	Weak transcription	Adipose Nuclei	Adipose
7	chr4:141924600-141927600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:141924800-141933200	Weak transcription	Left Ventricle	heart
9	chr4:141925200-141933200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:141925200-141933400	Weak transcription	Psoas Muscle	Psoas
11	chr4:141925200-141937200	Weak transcription	Right Atrium	heart
12	chr4:141925200-141942200	Weak transcription	Aorta	Aorta
13	chr4:141925800-141927600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:141926400-141927000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:141926400-141927800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr4:141926600-141928400	Enhancers	Liver	Liver
17	chr4:141926800-141927000	Weak transcription	Ovary	ovary
18	chr4:141926800-141927800	Weak transcription	Hela-S3	cervix
19	chr4:141926800-141932600	Weak transcription	Colon Smooth Muscle	Colon

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