Variant report

Variant	rs608740
Chromosome Location	chr8:61548701-61548702
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	chr8:61544364..61547029-chr8:61547472..61549189,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CA8-5	chr8:61545620-61548830	ENSG00000228862

Variant related genes	Relation type
ENSG00000228862	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10098769	0.81[MEX][hapmap]
rs2054670	0.90[CHB][hapmap];0.88[CHD][hapmap];0.80[JPT][hapmap]
rs2625442	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2680296	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2680297	0.92[CEU][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2680298	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3735825	0.81[MEX][hapmap]
rs597123	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs601778	0.90[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs609264	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs612558	0.82[CEU][hapmap];0.95[JPT][hapmap]
rs617434	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs618190	0.81[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap]
rs622755	0.85[JPT][hapmap]
rs623845	0.81[EUR][1000 genomes]
rs623917	0.81[CEU][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs625850	0.81[MEX][hapmap]
rs625979	0.92[CEU][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs626913	0.90[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs629268	0.81[MEX][hapmap]
rs629523	0.86[JPT][hapmap]
rs645067	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs657718	0.95[JPT][hapmap]
rs658176	0.92[CEU][hapmap];0.95[JPT][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs665893	0.90[CHB][hapmap];0.88[CHD][hapmap];0.80[JPT][hapmap]
rs671204	0.92[CEU][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs671576	0.82[CHD][hapmap];0.90[JPT][hapmap]
rs7413	0.81[MEX][hapmap]
rs7822621	0.81[CHD][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs608740	RAB2A	Cis_1M	lymphoblastoid	RTeQTL
rs608740	RAB2	cis	lesional skin	skin_eQTL
rs608740	RAB2A	cis	lymphoblastoid	seeQTL

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

No data

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