Variant report

Variant	rs17651424
Chromosome Location	chr5:111488600-111488601
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	chr5:111480653..111483715-chr5:111488508..111491421,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10515438	1.00[CHB][hapmap]
rs17134152	0.83[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17134154	1.00[MEX][hapmap]
rs17134156	1.00[MEX][hapmap]
rs17134238	1.00[JPT][hapmap]
rs17265886	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17266115	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17266727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.86[MKK][hapmap];0.87[ASN][1000 genomes]
rs17266771	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1975014	0.87[ASN][1000 genomes]
rs55812441	1.00[ASN][1000 genomes]
rs56071312	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56092269	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56158171	1.00[ASN][1000 genomes]
rs57349429	0.88[EUR][1000 genomes]
rs57541807	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60370278	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61482608	1.00[ASN][1000 genomes]
rs6898536	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73227487	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73227490	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73227492	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73227493	0.86[EUR][1000 genomes]
rs73227496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73787775	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73787779	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73787781	1.00[ASN][1000 genomes]
rs73787782	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73787784	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7449256	1.00[ASN][1000 genomes]
rs7700705	1.00[ASN][1000 genomes]
rs7711555	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7720064	1.00[ASN][1000 genomes]
rs7720344	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7730334	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731129	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919243	1.00[CHB][hapmap];0.87[ASN][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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17651424	SNORA13	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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