Variant report

Variant	rs12757866
Chromosome Location	chr5:59720514-59720515
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10782556	0.89[ASN][1000 genomes]
rs11161439	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11161447	0.80[ASN][1000 genomes]
rs11161465	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11161600	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11161602	0.91[ASN][1000 genomes]
rs11161605	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11164015	0.85[EUR][1000 genomes]
rs11164035	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11164037	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12021750	0.82[ASN][1000 genomes]
rs12022011	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12024645	0.89[ASN][1000 genomes]
rs12024786	0.82[ASN][1000 genomes]
rs12027620	0.82[ASN][1000 genomes]
rs12031600	0.85[ASN][1000 genomes]
rs12032051	0.81[ASN][1000 genomes]
rs12033058	0.89[ASN][1000 genomes]
rs12033059	0.89[ASN][1000 genomes]
rs12034697	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12044025	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12045299	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12045363	0.89[ASN][1000 genomes]
rs12049212	0.85[ASN][1000 genomes]
rs12404553	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12407107	0.89[ASN][1000 genomes]
rs12563737	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12564772	0.89[ASN][1000 genomes]
rs12724860	0.89[ASN][1000 genomes]
rs12727156	0.85[ASN][1000 genomes]
rs12728962	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12736447	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12744608	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12747967	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12756349	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12757213	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1391518	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1391520	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1535740	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1591120	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17097634	0.89[ASN][1000 genomes]
rs1826978	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2131558	0.89[ASN][1000 genomes]
rs34486572	0.89[ASN][1000 genomes]
rs34984955	0.82[ASN][1000 genomes]
rs35290302	0.85[ASN][1000 genomes]
rs35837767	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3737574	0.88[ASN][1000 genomes]
rs5745314	0.89[ASN][1000 genomes]
rs5745334	0.89[ASN][1000 genomes]
rs5745353	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5745426	0.84[ASN][1000 genomes]
rs5745429	0.85[ASN][1000 genomes]
rs58552356	0.87[ASN][1000 genomes]
rs6676182	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6680389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6695055	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67108483	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71502708	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71656856	0.87[ASN][1000 genomes]
rs7417486	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7525919	0.89[ASN][1000 genomes]
rs7548695	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7548991	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs815301	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs815304	0.83[EUR][1000 genomes]
rs815305	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9660848	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1015381	chr5:59678425-59772485	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1034331	chr5:59678773-59773467	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1018614	chr5:59708223-59910308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1033344	chr5:59710033-59773467	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv598289	chr5:59714130-59757242	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv968178	chr5:59715355-59730443	Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
9	nsv1026008	chr5:59717732-59761680	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1030689	chr5:59717732-59765065	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv1029577	chr5:59717732-59771723	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv1019718	chr5:59717732-59772485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv1020997	chr5:59717732-59773467	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv2763904	chr5:59717744-59773479	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12757866	RABGGTB	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59717000-59730000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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