Variant report

Variant	rs626913
Chromosome Location	chr8:61548494-61548495
allele	G/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: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1319105	0.80[JPT][hapmap]
rs2054670	0.81[CHB][hapmap]
rs2272621	0.82[JPT][hapmap]
rs2625442	0.82[ASN][1000 genomes]
rs2680296	0.90[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2680297	0.90[JPT][hapmap]
rs2680298	0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs597123	0.90[JPT][hapmap]
rs601778	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs608740	0.90[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs609264	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs612558	0.90[JPT][hapmap]
rs623917	0.94[JPT][hapmap]
rs625979	0.90[JPT][hapmap]
rs629523	0.81[JPT][hapmap]
rs645067	0.82[ASN][1000 genomes]
rs657718	0.90[JPT][hapmap]
rs658176	0.90[JPT][hapmap]
rs659118	0.81[JPT][hapmap]
rs665893	0.81[CHB][hapmap]
rs671576	0.86[JPT][hapmap]
rs7822621	0.90[JPT][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs626913	RAB2A	Cis_1M	lymphoblastoid	RTeQTL
rs626913	CLVS1	cis	cerebellum	SCAN

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

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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