Variant report

Variant	rs6926372
Chromosome Location	chr6:131388604-131388605
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131383954..131386540-chr6:131387983..131390748,2	K562	blood:

Variant related genes	Relation type
ENSG00000079819	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10872375	0.95[ASN][1000 genomes]
rs11154611	0.86[ASN][1000 genomes]
rs11760051	0.86[ASN][1000 genomes]
rs12195366	0.86[ASN][1000 genomes]
rs12196734	0.87[ASN][1000 genomes]
rs12197829	0.84[ASN][1000 genomes]
rs12203760	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12214021	0.96[ASN][1000 genomes]
rs1569195	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17059954	0.88[ASN][1000 genomes]
rs1976981	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2151068	0.97[ASN][1000 genomes]
rs2178282	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28812545	0.97[ASN][1000 genomes]
rs4259270	0.97[ASN][1000 genomes]
rs4498389	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62423583	0.84[ASN][1000 genomes]
rs6901548	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6902930	0.97[ASN][1000 genomes]
rs6903705	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6905151	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6907809	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6916206	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6921542	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7763960	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7770892	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9321264	0.87[ASN][1000 genomes]
rs9372986	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9372987	0.97[ASN][1000 genomes]
rs9372989	0.99[ASN][1000 genomes]
rs9375784	0.83[ASN][1000 genomes]
rs9375785	0.84[ASN][1000 genomes]
rs9375787	0.86[ASN][1000 genomes]
rs9375788	0.86[ASN][1000 genomes]
rs9375789	0.85[ASN][1000 genomes]
rs9375790	0.92[ASN][1000 genomes]
rs9375794	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9375795	0.88[ASN][1000 genomes]
rs9375796	0.96[ASN][1000 genomes]
rs9375797	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9388873	0.96[ASN][1000 genomes]
rs9388876	0.97[ASN][1000 genomes]
rs9388880	0.81[ASN][1000 genomes]
rs9398967	0.86[ASN][1000 genomes]
rs9398969	0.97[ASN][1000 genomes]
rs9398970	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9398971	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9398972	0.97[ASN][1000 genomes]
rs9398973	0.97[ASN][1000 genomes]
rs9398976	0.80[ASN][1000 genomes]
rs9402301	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9402306	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9402310	0.94[ASN][1000 genomes]
rs9402313	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9402314	0.99[ASN][1000 genomes]
rs9483210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9492790	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9492792	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs951251	0.98[ASN][1000 genomes]
rs954919	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6926372	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131385000-131389000	Weak transcription	Fetal Brain Male	brain
2	chr6:131385200-131389800	Weak transcription	Aorta	Aorta
3	chr6:131387200-131392800	Weak transcription	K562	blood
4	chr6:131388600-131389000	Enhancers	HepG2	liver
5	chr6:131388600-131389200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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