Variant report

Variant	rs10419722
Chromosome Location	chr19:51699811-51699812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr19:51699454-51699830	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51686150..51688287-chr19:51697466..51699885,2	K562	blood:

Variant related genes	Relation type
ENSG00000268652	TF binding region
SIGLEC21P	TF binding region
ENSG00000268336	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10404091	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10404245	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10404590	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10405709	0.87[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap]
rs10405784	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10411928	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10416576	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10421385	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10421852	0.88[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11084055	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11666927	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11667023	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11667167	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11672116	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16982535	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34186776	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34528093	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35203095	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35469086	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59266985	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67836621	0.86[EUR][1000 genomes]
rs7254890	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7255660	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7255837	0.83[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10419722	ZSCAN18	cis	parietal	SCAN
rs10419722	C19orf18	cis	cerebellum	SCAN
rs10419722	ZNF83	cis	parietal	SCAN
rs10419722	NLRP4	cis	parietal	SCAN
rs10419722	PTPRH	cis	parietal	SCAN
rs10419722	ZNF665	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51696200-51702000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:51696400-51705400	Weak transcription	Right Atrium	heart
3	chr19:51698800-51704400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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