Variant report

Variant	rs61826765
Chromosome Location	chr1:173625932-173625933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173625902..173627513-chr1:173630410..173632425,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10798291	0.81[ASN][1000 genomes]
rs10798292	0.81[ASN][1000 genomes]
rs12032790	0.84[ASN][1000 genomes]
rs12039524	0.87[ASN][1000 genomes]
rs12041743	0.84[ASN][1000 genomes]
rs12042027	0.84[ASN][1000 genomes]
rs12065988	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12561820	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12568477	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2422467	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901747	0.81[ASN][1000 genomes]
rs2901748	0.81[ASN][1000 genomes]
rs56138893	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58287165	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59858609	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61826760	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61826764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826766	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61826768	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61826769	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61826805	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61826806	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61826809	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61826810	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61828911	0.82[ASN][1000 genomes]
rs61828913	0.84[ASN][1000 genomes]
rs61828914	0.85[ASN][1000 genomes]
rs61828922	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61828923	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6425251	0.81[ASN][1000 genomes]
rs6674589	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6681766	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72709357	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs727924	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7513933	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7552723	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61826765	CLN5	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173613600-173629800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:173623600-173637400	Weak transcription	Brain Anterior Caudate	brain
3	chr1:173624600-173626400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:173624800-173626000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr1:173624800-173626000	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:173624800-173626200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:173624800-173626400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr1:173625200-173626600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:173625200-173627000	Weak transcription	Fetal Kidney	kidney
10	chr1:173625400-173638400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:173625800-173626000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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