Variant report

Variant	rs12212934
Chromosome Location	chr6:133185588-133185589
allele	A/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:
2	chr6:133176521..133178279-chr6:133183848..133185763,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000220557	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10457591	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs10457593	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10457595	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10457596	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10484628	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11154698	0.92[ASN][1000 genomes]
rs1128998	0.85[CEU][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs11758796	0.88[ASN][1000 genomes]
rs12190684	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12191058	0.92[ASN][1000 genomes]
rs12193474	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12194625	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs12194802	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12195249	0.92[ASN][1000 genomes]
rs12196336	0.92[ASN][1000 genomes]
rs12197430	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs12198849	0.87[EUR][1000 genomes]
rs12198970	1.00[ASN][1000 genomes]
rs12199381	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12200848	0.92[ASN][1000 genomes]
rs12201540	0.92[ASN][1000 genomes]
rs12202407	0.92[ASN][1000 genomes]
rs12203738	1.00[ASN][1000 genomes]
rs12204027	1.00[CHB][hapmap]
rs12204693	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12204740	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12204863	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12207011	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12209144	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12211425	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12215084	0.92[ASN][1000 genomes]
rs12215088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12215486	0.92[ASN][1000 genomes]
rs17061751	0.92[ASN][1000 genomes]
rs28693848	0.92[ASN][1000 genomes]
rs28706652	0.88[ASN][1000 genomes]
rs34334052	0.84[ASN][1000 genomes]
rs3778173	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3778175	0.92[ASN][1000 genomes]
rs3813347	1.00[JPT][hapmap]
rs55708537	0.92[ASN][1000 genomes]
rs55959738	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs56170227	0.92[ASN][1000 genomes]
rs58265543	0.85[ASN][1000 genomes]
rs59585087	0.87[AFR][1000 genomes]
rs59740783	0.84[ASN][1000 genomes]
rs60062075	0.92[ASN][1000 genomes]
rs60412119	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs62424539	0.89[EUR][1000 genomes]
rs62425110	0.92[ASN][1000 genomes]
rs62425113	0.92[ASN][1000 genomes]
rs62425114	0.92[ASN][1000 genomes]
rs62425132	0.92[ASN][1000 genomes]
rs62425133	0.92[ASN][1000 genomes]
rs62425137	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62426668	0.88[ASN][1000 genomes]
rs62426674	0.88[ASN][1000 genomes]
rs6934161	1.00[CHB][hapmap]
rs9375919	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs9389032	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs9389033	0.85[CEU][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs9402452	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs9402453	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs9402455	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs9493445	1.00[CHB][hapmap]
rs9493446	1.00[CHB][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
rs12212934	C6orf192	Cis_1M	lymphoblastoid	RTeQTL
rs12212934	C6orf192	cis	multi-tissue	Pritchard

Chromatin state (count:6 , 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	chr6:133185000-133185600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr6:133185000-133186600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:133185200-133186200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:133185200-133187200	Enhancers	GM12878-XiMat	blood
6	chr6:133185400-133186800	Enhancers	HUES48 Cell Line	embryonic stem cell

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