Variant report

Variant	rs6792847
Chromosome Location	chr3:101341555-101341556
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	chr3:101334276..101336350-chr3:101340369..101341932,2	K562	blood:

Variant related genes	Relation type
ENSG00000252348	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1078154	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12629395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12631729	0.88[EUR][1000 genomes]
rs13062695	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13063994	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13065665	1.00[CEU][hapmap];0.88[LWK][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs13070567	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs13078121	1.00[CEU][hapmap];0.88[LWK][hapmap];0.84[MEX][hapmap];0.81[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs13097625	0.90[CEU][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.92[EUR][1000 genomes]
rs13097712	0.86[EUR][1000 genomes]
rs16844078	0.89[EUR][1000 genomes]
rs16844120	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34103639	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34408425	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34508490	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34774691	0.88[EUR][1000 genomes]
rs34930373	0.88[EUR][1000 genomes]
rs35102530	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35917542	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3762735	0.88[EUR][1000 genomes]
rs6441619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6762367	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs6791241	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71315243	0.88[EUR][1000 genomes]
rs71315244	0.88[EUR][1000 genomes]
rs71315245	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71315246	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71315249	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7619122	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7630598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7632449	0.87[ASW][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7637805	0.87[AFR][1000 genomes];0.92[EUR][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	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv963347	chr3:101318121-101342898	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6792847	CBLB	cis	cerebellum	SCAN
rs6792847	NIT2	cis	cerebellum	SCAN
rs6792847	ZBTB11	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101331400-101342600	Weak transcription	K562	blood
2	chr3:101331800-101341600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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