Variant report

Variant	rs12193474
Chromosome Location	chr6:133186168-133186169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133184927..133187651-chr6:133189830..133192430,2	K562	blood:

Variant related genes	Relation type
ENSG00000220557	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10457591	1.00[JPT][hapmap]
rs10457593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10457595	0.88[ASN][1000 genomes]
rs10484628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10484629	0.90[TSI][hapmap]
rs11154698	0.88[ASN][1000 genomes]
rs1128998	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs11758796	0.84[ASN][1000 genomes]
rs12190684	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12191058	0.88[ASN][1000 genomes]
rs12194625	1.00[JPT][hapmap]
rs12194802	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12195249	0.88[ASN][1000 genomes]
rs12196336	0.88[ASN][1000 genomes]
rs12197430	1.00[JPT][hapmap]
rs12198970	0.96[ASN][1000 genomes]
rs12199381	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12200848	0.88[ASN][1000 genomes]
rs12201540	0.88[ASN][1000 genomes]
rs12202407	0.88[ASN][1000 genomes]
rs12203738	0.96[ASN][1000 genomes]
rs12204027	1.00[CHB][hapmap]
rs12204693	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12204740	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12204863	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12207011	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12209144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12211425	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12212934	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12215084	0.88[ASN][1000 genomes]
rs12215088	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12215486	0.88[ASN][1000 genomes]
rs1467404	0.81[TSI][hapmap]
rs17061751	0.88[ASN][1000 genomes]
rs28693848	0.88[ASN][1000 genomes]
rs28706652	0.84[ASN][1000 genomes]
rs34334052	0.88[ASN][1000 genomes]
rs3778173	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3778175	0.88[ASN][1000 genomes]
rs3813347	1.00[JPT][hapmap]
rs55708537	0.88[ASN][1000 genomes]
rs55959738	0.88[ASN][1000 genomes]
rs56170227	0.88[ASN][1000 genomes]
rs58265543	0.81[ASN][1000 genomes]
rs59740783	0.88[ASN][1000 genomes]
rs60062075	0.88[ASN][1000 genomes]
rs60412119	0.88[ASN][1000 genomes]
rs62425110	0.88[ASN][1000 genomes]
rs62425113	0.88[ASN][1000 genomes]
rs62425114	0.88[ASN][1000 genomes]
rs62425132	0.88[ASN][1000 genomes]
rs62425133	0.88[ASN][1000 genomes]
rs62425137	0.88[ASN][1000 genomes]
rs62426668	0.84[ASN][1000 genomes]
rs62426674	0.84[ASN][1000 genomes]
rs6934161	1.00[CHB][hapmap];0.91[TSI][hapmap]
rs7770081	0.81[TSI][hapmap]
rs9375919	1.00[JPT][hapmap]
rs9389032	1.00[JPT][hapmap]
rs9389033	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs9402452	1.00[JPT][hapmap]
rs9402453	1.00[JPT][hapmap]
rs9402455	1.00[JPT][hapmap]
rs9493435	0.81[TSI][hapmap]
rs9493445	1.00[CHB][hapmap]
rs9493446	1.00[CHB][hapmap];0.91[TSI][hapmap]
rs9493454	0.91[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12193474	C6orf192	cis	multi-tissue	Pritchard
rs12193474	C6orf192	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133183000-133186200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:133185000-133186600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:133185200-133186200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:133185200-133187200	Enhancers	GM12878-XiMat	blood
5	chr6:133185400-133186800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:133185800-133188000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:133186000-133186600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr6:133186000-133186600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:133186000-133186600	Enhancers	HUES64 Cell Line	embryonic stem cell

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