Variant report

Variant	rs16926002
Chromosome Location	chr8:61231244-61231245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61226478..61228386-chr8:61230006..61231856,2	K562	blood:
2	chr8:61231129..61232873-chr8:61242746..61245101,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10092218	0.85[CEU][hapmap];0.95[JPT][hapmap]
rs12542601	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12543911	0.89[EUR][1000 genomes]
rs12708003	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs13248852	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13271624	0.91[EUR][1000 genomes]
rs16925984	0.88[YRI][hapmap]
rs16925991	0.88[YRI][hapmap]
rs16925993	0.81[YRI][hapmap]
rs16926008	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1893275	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs41337844	0.88[YRI][hapmap]
rs59550103	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7011237	0.82[CEU][hapmap]
rs73250004	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7461425	0.89[EUR][1000 genomes]
rs7464602	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814995	0.88[YRI][hapmap]
rs7824479	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs7833440	0.87[YRI][hapmap]
rs899741	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.99[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	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	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16926002	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61226600-61232800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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