Variant report

Variant	esv1101169
Chromosome Location	chr4:89854787-89854788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:89853119..89856686-chr4:89857478..89862427,5	K562	blood:

Variant related genes	Relation type
ENSG00000138640	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 83 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35620540	chr4:89854788-89854789	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89820000-89859200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:89825600-89878400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:89840800-89862800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:89845400-89859600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:89845400-89866400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:89845600-89857600	Weak transcription	Gastric	stomach
7	chr4:89847200-89858800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:89847400-89858200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:89847800-89855400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr4:89848400-89861000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:89850200-89878800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:89850400-89861200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:89851400-89859200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:89851400-89883600	Weak transcription	Fetal Intestine Large	intestine
15	chr4:89852000-89855200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr4:89852400-89856000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:89852400-89856000	Weak transcription	Aorta	Aorta
18	chr4:89852400-89856000	Weak transcription	Ovary	ovary
19	chr4:89852400-89857400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:89852400-89857600	Weak transcription	Pancreas	Pancrea
21	chr4:89852400-89885000	Weak transcription	Fetal Lung	lung
22	chr4:89852600-89865400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:89852600-89877800	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:89852600-89879200	Weak transcription	Fetal Stomach	stomach
25	chr4:89852600-89879400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr4:89852800-89856200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:89853200-89857600	Active TSS	Placenta	Placenta
28	chr4:89853600-89859000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:89853800-89855000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:89853800-89855200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr4:89854000-89855000	Enhancers	Primary T cells from cord blood	blood
32	chr4:89854400-89854800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr4:89854400-89855000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr4:89854400-89855000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr4:89854400-89855600	Enhancers	Fetal Intestine Small	intestine
36	chr4:89854400-89860200	Weak transcription	Fetal Heart	heart
37	chr4:89854600-89855000	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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