Variant report

Variant	rs12190684
Chromosome Location	chr6:133122767-133122768
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
ENSG00000112306	Chromatin interaction
ENSG00000200534	Chromatin interaction
ENSG00000206754	Chromatin interaction
ENSG00000146409	Chromatin interaction
ENSG00000221500	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10457591	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10457593	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457595	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457596	0.82[CEU][hapmap]
rs10484628	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10484629	1.00[CHB][hapmap]
rs1073512	0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs11154698	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11758796	0.81[ASN][1000 genomes]
rs11965044	0.82[YRI][hapmap];0.81[AFR][1000 genomes]
rs12191058	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193474	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12194625	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs12194802	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195249	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196336	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197430	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12198970	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12199381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12200848	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201540	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201769	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12202407	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203738	0.92[ASN][1000 genomes]
rs12204027	1.00[CHB][hapmap]
rs12204693	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204863	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207011	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12209144	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12211425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211701	1.00[CHB][hapmap]
rs12212934	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12215084	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215088	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs12215486	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467403	1.00[CHB][hapmap]
rs1467404	1.00[CHB][hapmap]
rs17061741	0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs17061751	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143387	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2294761	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28693848	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28706652	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3778173	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778175	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813347	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs55708537	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55959738	0.85[ASN][1000 genomes]
rs56042401	0.81[AFR][1000 genomes]
rs56170227	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58265543	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59543333	0.81[EUR][1000 genomes]
rs60062075	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60412119	0.85[ASN][1000 genomes]
rs62425110	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425113	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425114	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425132	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425133	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425137	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62426668	0.81[ASN][1000 genomes]
rs62426674	0.81[ASN][1000 genomes]
rs6569847	1.00[CHB][hapmap]
rs6912936	1.00[CHB][hapmap]
rs6920369	0.80[AFR][1000 genomes]
rs6934161	1.00[CHB][hapmap]
rs7738071	1.00[CHB][hapmap]
rs7738400	1.00[CHB][hapmap]
rs7758703	1.00[CHB][hapmap]
rs7760377	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs7761365	1.00[CHB][hapmap]
rs7765224	1.00[CHB][hapmap]
rs7770081	1.00[CHB][hapmap]
rs7770641	0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs9321367	1.00[CHB][hapmap]
rs9375919	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9389032	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9389033	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9402452	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9402453	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9402455	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9493435	1.00[CHB][hapmap]
rs9493436	1.00[CHB][hapmap]
rs9493437	1.00[CHB][hapmap]
rs9493445	1.00[CHB][hapmap]
rs9493446	1.00[CHB][hapmap]

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
rs12190684	C6orf192	Cis_1M	lymphoblastoid	RTeQTL
rs12190684	C6orf192	cis	multi-tissue	Pritchard

Chromatin state (count:7 , 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	chr6:133121600-133122800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:133122400-133122800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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