Variant report

Variant	rs246968
Chromosome Location	chr5:118899775-118899776
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118891974..118894099-chr5:118898157..118900146,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10478422	0.82[CHB][hapmap]
rs11205	0.91[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs11241507	0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1155777	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs11949608	0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs12187149	0.93[ASN][1000 genomes]
rs1490756	0.86[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs150938	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs1620133	0.85[ASN][1000 genomes]
rs1651227	0.90[ASN][1000 genomes]
rs165995	0.84[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.94[ASN][1000 genomes]
rs17145464	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1848554	0.86[CHB][hapmap]
rs1995794	0.81[CHB][hapmap]
rs257969	0.86[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap]
rs257985	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2914210	0.91[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs3797368	0.90[CHB][hapmap];0.80[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs3797372	0.91[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs3822527	0.80[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs463098	0.84[YRI][hapmap]
rs7716785	0.89[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs7721752	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv882776	chr5:118859546-118915408	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv882777	chr5:118870452-118981480	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv965573	chr5:118891291-118904467	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs246968	AP3S1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118891600-118899800	Weak transcription	Pancreas	Pancrea

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