Variant report

Variant	rs4379224
Chromosome Location	chr5:95579235-95579236
allele	A/T
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	PBX3	chr5:95578894-95579751	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr5:95578708-95579750	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr5:95578893-95579773	SK-N-SH	brain:	n/a	n/a
4	FOXA1	chr5:95578820-95579369	HepG2	liver:	n/a	chr5:95578984-95578996
5	GATA3	chr5:95578551-95579832	SK-N-SH	brain:	n/a	chr5:95579522-95579529 chr5:95578957-95578968 chr5:95579522-95579529 chr5:95579522-95579529
6	NFIC	chr5:95578580-95579709	SK-N-SH	brain:	n/a	chr5:95578758-95578774
7	RAD21	chr5:95579068-95579365	IMR90	lung:	n/a	n/a
8	GATA3	chr5:95578807-95579775	SK-N-SH	brain:	n/a	chr5:95579522-95579529 chr5:95578957-95578968 chr5:95579522-95579529 chr5:95579522-95579529
9	EP300	chr5:95578761-95579824	SK-N-SH	brain:	n/a	chr5:95579014-95579028 chr5:95578883-95578897 chr5:95578887-95578901
10	JUND	chr5:95578970-95579711	SK-N-SH	brain:	n/a	chr5:95579395-95579406

Variant related genes	Relation type
ENSG00000250158	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10037912	0.86[AFR][1000 genomes]
rs10054303	0.83[ASN][1000 genomes]
rs10062171	0.96[ASN][1000 genomes]
rs10064683	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10213951	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10476546	0.91[YRI][hapmap]
rs11135450	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs12518407	0.96[ASN][1000 genomes]
rs271920	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs271922	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs271924	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs271925	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs271926	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs28788264	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4077816	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4264961	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4367317	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4464721	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4635954	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4635955	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4869275	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55745974	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56311820	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6233	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs62366027	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62366031	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6556912	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6885381	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6888535	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6893547	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs6895341	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6899076	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72787618	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7447610	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7708068	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95571000-95579600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:95572200-95582800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:95578000-95584200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:95578200-95580000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:95578200-95581200	Weak transcription	Aorta	Aorta
6	chr5:95578200-95584000	Enhancers	Osteobl	bone
7	chr5:95578400-95579800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:95578400-95580200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:95578400-95580800	Enhancers	HepG2	liver
10	chr5:95578600-95579400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:95578600-95579400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:95578600-95580000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:95578800-95580800	Weak transcription	HSMMtube	muscle
14	chr5:95578800-95581400	Enhancers	Liver	Liver
15	chr5:95578800-95582400	Weak transcription	NHLF	lung
16	chr5:95579000-95579400	Weak transcription	NHDF-Ad	bronchial
17	chr5:95579000-95580000	Enhancers	NH-A	brain
18	chr5:95579200-95581000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr5:95579200-95582800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:95579200-95583200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:95579200-95584400	Enhancers	HSMM	muscle

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