Variant report

Variant	rs62422486
Chromosome Location	chr6:131800354-131800355
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs17060275	0.94[EUR][1000 genomes]
rs17060292	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17655962	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4623265	0.92[EUR][1000 genomes]
rs55723562	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55873256	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56133348	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56271417	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62422475	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62422479	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62422481	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62422483	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62422484	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62422485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62424698	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62424699	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67152858	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs68077748	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6899380	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6909908	0.84[EUR][1000 genomes]
rs6930418	0.89[EUR][1000 genomes]
rs714100	0.94[EUR][1000 genomes]
rs7750184	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7760164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7776445	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9483286	0.92[EUR][1000 genomes]
rs9492982	0.85[EUR][1000 genomes]
rs960789	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1839224	chr6:131703293-131834119	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2829868	chr6:131729859-131898208	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131798800-131800800	Enhancers	K562	blood
2	chr6:131798800-131801000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr6:131799400-131811200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:131799800-131800400	Active TSS	HepG2	liver
5	chr6:131800000-131800400	Weak transcription	Fetal Intestine Large	intestine
6	chr6:131800000-131800400	Weak transcription	Fetal Intestine Small	intestine

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