Variant report

Variant	rs60062075
Chromosome Location	chr6:133131415-133131416
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:133131317-133131462	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:133131077-133131620	K562	blood:	n/a	n/a

Variant related genes	Relation type
RPS12	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10457591	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10457593	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457595	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10484628	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11154698	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128998	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11758796	0.81[ASN][1000 genomes]
rs12190684	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191058	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193474	0.88[ASN][1000 genomes]
rs12194802	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195249	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196336	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197430	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12198970	0.92[ASN][1000 genomes]
rs12199381	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12200848	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201540	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201769	0.88[ASN][1000 genomes]
rs12202407	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203738	0.92[ASN][1000 genomes]
rs12204693	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204740	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204863	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207011	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211425	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212934	0.92[ASN][1000 genomes]
rs12215084	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215088	0.92[ASN][1000 genomes]
rs12215486	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17061751	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143387	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2294761	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28693848	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28706652	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3778173	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778175	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55708537	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55959738	0.85[ASN][1000 genomes]
rs56170227	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58265543	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60412119	0.85[ASN][1000 genomes]
rs62425110	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425113	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425114	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425132	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425133	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425137	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62426668	0.81[ASN][1000 genomes]
rs62426674	0.81[ASN][1000 genomes]
rs9375919	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9389032	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9389033	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9402452	0.88[ASN][1000 genomes]
rs9402453	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9402455	0.93[EUR][1000 genomes];0.88[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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	esv1806734	chr6:133125643-133168582	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60062075	C6orf192	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133120800-133134000	Weak transcription	Pancreas	Pancrea
2	chr6:133121200-133133600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:133130000-133133600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:133131200-133131600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:133131200-133133200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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