Variant report

Variant	rs12204027
Chromosome Location	chr6:133122831-133122832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr6:133122752-133122850	HepG2	liver:	n/a	n/a
2	MAFF	chr6:133122670-133122869	HepG2	liver:	n/a	n/a
3	MAFK	chr6:133122761-133122887	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:133122629..133124869-chr6:133126190..133128532,2	MCF-7	breast:
2	chr6:133118738..133121936-chr6:133122452..133126687,7	K562	blood:
3	chr6:133117688..133126502-chr6:133133829..133139054,19	MCF-7	breast:
4	chr6:133118544..133124606-chr6:133132137..133138834,13	MCF-7	breast:
5	chr6:133119880..133121448-chr6:133122542..133124062,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC18B1	TF binding region
ENSG00000221500	Chromatin interaction
ENSG00000206754	Chromatin interaction
ENSG00000200534	Chromatin interaction
ENSG00000146409	Chromatin interaction
ENSG00000112306	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10457593	1.00[CHB][hapmap]
rs10457596	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10484628	1.00[CHB][hapmap]
rs10484629	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11962883	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11964512	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12190684	1.00[CHB][hapmap]
rs12193474	1.00[CHB][hapmap]
rs12194802	1.00[CHB][hapmap]
rs12198849	0.91[ASN][1000 genomes]
rs12199381	1.00[CHB][hapmap]
rs12203977	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204693	1.00[CHB][hapmap]
rs12204740	1.00[CHB][hapmap]
rs12204863	1.00[CHB][hapmap]
rs12207011	1.00[CHB][hapmap]
rs12209144	1.00[CHB][hapmap]
rs12211425	1.00[CHB][hapmap]
rs12211701	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12212934	1.00[CHB][hapmap]
rs12215088	1.00[CHB][hapmap]
rs1467403	1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1467404	1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3778173	1.00[CHB][hapmap]
rs3813347	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58832890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61421874	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62424539	0.91[ASN][1000 genomes]
rs6569847	1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6569848	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6910639	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6912936	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6915168	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73554431	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7738071	1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7738256	0.86[YRI][hapmap]
rs7738400	1.00[JPT][hapmap]
rs7758703	1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7761365	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7765224	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7769051	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7770081	1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9321367	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9321371	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9399041	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493435	1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493436	1.00[JPT][hapmap]
rs9493437	1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493438	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493443	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493454	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9766095	0.82[AFR][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12204027	C6orf192	cis	multi-tissue	Pritchard
rs12204027	C6orf192	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133120400-133126200	Weak transcription	Fetal Heart	heart
2	chr6:133120800-133134000	Weak transcription	Pancreas	Pancrea
3	chr6:133121200-133128000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:133121200-133129000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:133121200-133133600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:133122800-133123000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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