Variant report

Variant	esv3384741
Chromosome Location	chr4:110889665-110889802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr4:110889525-110889710	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr4:110888725-110889678	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110887831..110890473-chr4:110895882..110898637,2	MCF-7	breast:

Variant related genes	Relation type
EGF	TF binding region
ENSG00000138798	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566869855	chr4:110889673-110889674	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs11568976	chr4:110889709-110889710	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11568977	chr4:110889713-110889714	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189304101	chr4:110889738-110889739	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs537975079	chr4:110889739-110889740	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs556859451	chr4:110889744-110889745	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112262428	chr4:110889770-110889771	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528284080	chr4:110889775-110889776	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	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
Ovarian cancer	21720365	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110860600-110906600	Weak transcription	Psoas Muscle	Psoas
2	chr4:110875600-110909800	Weak transcription	Pancreas	Pancrea
3	chr4:110884200-110893600	Weak transcription	Fetal Heart	heart
4	chr4:110885800-110897200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:110885800-110909800	Weak transcription	Left Ventricle	heart
6	chr4:110887800-110889800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:110888000-110890400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:110888000-110891200	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:110888200-110890600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:110888200-110890600	Enhancers	HMEC	breast
11	chr4:110888200-110891000	Enhancers	HUVEC	blood vessel
12	chr4:110888200-110893800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:110888400-110889800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:110888600-110889800	Enhancers	NH-A	brain
15	chr4:110888600-110890800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:110888800-110891200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:110889000-110890400	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr4:110889000-110890600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr4:110889000-110891000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:110889000-110891600	Enhancers	Primary B cells from peripheral blood	blood
21	chr4:110889000-110891800	Enhancers	Primary hematopoietic stem cells	blood
22	chr4:110889000-110894000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:110889400-110889800	Enhancers	Primary B cells from cord blood	blood
24	chr4:110889400-110891000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr4:110889400-110891800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr4:110889600-110889800	Enhancers	HSMM	muscle
27	chr4:110889600-110890200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:110889600-110890400	Enhancers	NHEK	skin
29	chr4:110889600-110890600	Enhancers	GM12878-XiMat	blood
30	chr4:110889600-110891000	Weak transcription	Placenta Amnion	Placenta Amnion

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