Variant report

Variant	esv2228589
Chromosome Location	chr4:86491339-86491737
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	CHD2	chr4:86491600-86491715	H1-hESC	embryonic stem cell:	n/a	n/a
2	EBF1	chr4:86491153-86491393	GM12878	blood:	n/a	n/a
3	RUNX3	chr4:86491123-86491463	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ARHGAP24	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527801632	chr4:86491389-86491390	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs1871823	chr4:86491434-86491435	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs376080241	chr4:86491466-86491467	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573600480	chr4:86491470-86491471	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113213777	chr4:86491473-86491474	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28560478	chr4:86491491-86491492	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144959851	chr4:86491518-86491519	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529067364	chr4:86491526-86491527	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200046216	chr4:86491540-86491541	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200210078	chr4:86491542-86491543	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550897235	chr4:86491543-86491544	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs66483749	chr4:86491544-86491545	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113143030	chr4:86491545-86491546	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112653747	chr4:86491547-86491548	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150308785	chr4:86491548-86491549	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569062772	chr4:86491554-86491555	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370057749	chr4:86491584-86491585	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs71599418	chr4:86491590-86491591	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186733475	chr4:86491594-86491595	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146002567	chr4:86491654-86491655	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs551108315	chr4:86491681-86491682	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs150698221	chr4:86491702-86491703	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs533981205	chr4:86491714-86491715	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs377269441	chr4:86491717-86491718	Enhancers Weak transcription Strong transcription Genic enhancers	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
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
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86476800-86491800	Weak transcription	NHDF-Ad	bronchial
2	chr4:86477000-86493000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:86477600-86494600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:86478000-86501000	Weak transcription	Right Ventricle	heart
5	chr4:86479000-86493800	Weak transcription	Spleen	Spleen
6	chr4:86482200-86491600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:86484800-86491600	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:86485200-86491600	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:86486000-86509200	Weak transcription	Left Ventricle	heart
10	chr4:86487000-86509200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:86487200-86491800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:86487200-86521200	Weak transcription	HSMMtube	muscle
13	chr4:86488000-86492400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:86488200-86491800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:86488800-86491800	Weak transcription	Primary B cells from cord blood	blood
16	chr4:86488800-86512400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:86489000-86493200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:86489400-86492400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:86490000-86491600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr4:86490200-86491800	Weak transcription	Adipose Nuclei	Adipose
21	chr4:86490600-86491400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:86490600-86491400	Enhancers	NHEK	skin
23	chr4:86490600-86492000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:86491000-86491400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:86491000-86491400	Flanking Active TSS	GM12878-XiMat	blood
26	chr4:86491000-86492000	Enhancers	HMEC	breast
27	chr4:86491200-86491800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr4:86491200-86491800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr4:86491200-86492000	Genic enhancers	HSMM	muscle
30	chr4:86491200-86494800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:86491400-86491800	Enhancers	GM12878-XiMat	blood
32	chr4:86491400-86494000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:86491600-86492200	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr4:86491600-86492600	Strong transcription	Fetal Muscle Leg	muscle
35	chr4:86491600-86494800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr4:86491600-86497400	Strong transcription	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links