Variant report

Variant	rs12198970
Chromosome Location	chr6:133167919-133167920
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	chr6:133132907..133137002-chr6:133163874..133168278,4	MCF-7	breast:
2	chr6:133139605..133142425-chr6:133167716..133170536,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112306	Chromatin interaction
ENSG00000206754	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10457593	0.92[ASN][1000 genomes]
rs10457595	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10484628	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11154698	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11758796	0.88[ASN][1000 genomes]
rs12190684	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12191058	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12193474	0.96[ASN][1000 genomes]
rs12194802	0.92[ASN][1000 genomes]
rs12195249	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12196336	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12200848	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12201540	0.92[ASN][1000 genomes]
rs12202407	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12203738	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12204693	0.92[ASN][1000 genomes]
rs12204740	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12204863	0.92[ASN][1000 genomes]
rs12207011	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12211425	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12212934	1.00[ASN][1000 genomes]
rs12215084	0.92[ASN][1000 genomes]
rs12215088	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12215486	0.92[ASN][1000 genomes]
rs17061751	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28693848	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28706652	0.88[ASN][1000 genomes]
rs34334052	0.84[ASN][1000 genomes]
rs3778173	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3778175	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55708537	0.92[ASN][1000 genomes]
rs55959738	0.92[ASN][1000 genomes]
rs56170227	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58265543	0.85[ASN][1000 genomes]
rs59740783	0.84[ASN][1000 genomes]
rs60062075	0.92[ASN][1000 genomes]
rs60412119	0.92[ASN][1000 genomes]
rs62425110	0.92[ASN][1000 genomes]
rs62425113	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62425114	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62425132	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62425133	0.92[ASN][1000 genomes]
rs62425137	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62426668	0.88[ASN][1000 genomes]
rs62426674	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv1806734	chr6:133125643-133168582	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12198970	SLC18B1	cis	Thyroid	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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