Variant report

Variant	rs4958035
Chromosome Location	chr5:111637425-111637426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111629073..111631228-chr5:111635645..111639350,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11739473	0.85[AFR][1000 genomes]
rs12653972	0.81[JPT][hapmap];0.85[AFR][1000 genomes]
rs13355094	0.85[AFR][1000 genomes]
rs13355356	0.85[AFR][1000 genomes]
rs2162739	0.82[AFR][1000 genomes]
rs4455607	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4958036	0.81[JPT][hapmap]
rs4958038	0.85[AFR][1000 genomes]
rs6594583	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6594585	0.80[CEU][hapmap]
rs6594586	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6860443	0.86[CHB][hapmap];0.90[JPT][hapmap];0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6860601	0.87[CHB][hapmap];0.86[JPT][hapmap];0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6880333	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6888754	0.81[JPT][hapmap]
rs7715378	0.98[ASN][1000 genomes]
rs885137	0.85[AFR][1000 genomes]
rs9326850	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs9326852	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs940470	0.91[AFR][1000 genomes]

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	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1021530	chr5:111626266-111683317	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1028181	chr5:111628901-111683317	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111630400-111639600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:111631000-111639400	Weak transcription	Left Ventricle	heart
3	chr5:111631000-111639600	Weak transcription	Right Ventricle	heart
4	chr5:111635200-111638600	Weak transcription	Fetal Heart	heart
5	chr5:111635600-111651800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:111636400-111639800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:111636400-111640400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:111637000-111639000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:111637000-111642200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:111637200-111639600	Weak transcription	Pancreas	Pancrea
11	chr5:111637400-111684600	Weak transcription	Aorta	Aorta

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