Variant report

Variant	rs12193274
Chromosome Location	chr6:73355463-73355464
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10485212	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10943043	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10943045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943050	0.84[EUR][1000 genomes]
rs11758568	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12189933	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12190091	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12190092	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191039	0.84[EUR][1000 genomes]
rs12191848	0.83[EUR][1000 genomes]
rs12194741	0.83[CEU][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs12195259	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs12196826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199549	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs12201380	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs12203288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204139	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12210850	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs12212419	0.82[EUR][1000 genomes]
rs12212562	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12212818	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs12214096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214894	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12374631	0.83[CEU][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16882715	1.00[JPT][hapmap]
rs17692552	0.86[ASN][1000 genomes]
rs17692715	0.89[ASW][hapmap];0.91[CEU][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17749123	0.86[ASN][1000 genomes]
rs1928153	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34821312	0.88[EUR][1000 genomes]
rs41265505	0.86[ASN][1000 genomes]
rs56086224	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62411986	0.84[EUR][1000 genomes]
rs6453591	0.91[CEU][hapmap];0.90[MEX][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6453592	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6453593	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6453594	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs768790	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7746067	1.00[YRI][hapmap]
rs7748594	0.84[EUR][1000 genomes]
rs7768673	0.91[CEU][hapmap];0.90[MEX][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs953742	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3347486	chr6:73283590-73445976	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12193274	C6orf221	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73334400-73358800	Weak transcription	HSMM	muscle
2	chr6:73334600-73356200	Weak transcription	HMEC	breast
3	chr6:73336200-73359000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:73336200-73362800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:73337400-73356200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:73338600-73358600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:73346800-73358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:73352000-73358600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:73355000-73358600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:73355200-73362200	Weak transcription	Psoas Muscle	Psoas

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