Variant report

Variant	rs61826768
Chromosome Location	chr1:173641827-173641828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173639722..173641847-chr1:173856843..173859341,2	K562	blood:
2	chr1:173636990..173640575-chr1:173641097..173643472,4	K562	blood:
3	chr1:173637865..173640575-chr1:173641097..173642969,2	K562	blood:
4	chr1:173637673..173644505-chr1:173792419..173795621,6	K562	blood:

Variant related genes	Relation type
ENSG00000117593	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000183831	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12032790	0.80[ASN][1000 genomes]
rs12039524	0.83[ASN][1000 genomes]
rs12041743	0.80[ASN][1000 genomes]
rs12042027	0.80[ASN][1000 genomes]
rs12065988	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12561820	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12568477	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2422467	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56138893	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58287165	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59858609	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61826760	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61826764	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61826765	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61826766	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61826769	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61826793	0.81[ASN][1000 genomes]
rs61826805	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61826806	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61826809	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61826810	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61828913	0.80[ASN][1000 genomes]
rs61828914	0.81[ASN][1000 genomes]
rs61828922	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61828923	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6674589	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6681766	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72709357	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs727924	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7513933	0.92[EUR][1000 genomes];0.92[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
rs61826768	CLN5	trans	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173630600-173646600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:173639000-173657200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:173639800-173645200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:173640600-173642200	Enhancers	K562	blood

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