Variant report

Variant	rs17112951
Chromosome Location	chr14:20994061-20994062
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:20994020-20994170	HEEpiC	esophagus:	n/a	chr14:20994120-20994129 chr14:20994116-20994129 chr14:20994116-20994129 chr14:20994114-20994132
2	CTCF	chr14:20994000-20994150	HepG2	liver:	n/a	chr14:20994120-20994129 chr14:20994116-20994129 chr14:20994116-20994129 chr14:20994114-20994132
3	CTCF	chr14:20993987-20994232	GM12878	blood:	n/a	chr14:20994120-20994129 chr14:20994116-20994129 chr14:20994116-20994129 chr14:20994114-20994132
4	CTCF	chr14:20993960-20994110	HepG2	liver:	n/a	n/a
5	STAT3	chr14:20993993-20994180	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20922450..20924402-chr14:20992995..20995331,2	MCF-7	breast:
2	chr14:20935924..20938914-chr14:20993762..20995397,2	MCF-7	breast:

Variant related genes	Relation type
PTCD2P1	TF binding region
ENSG00000092094	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000198805	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10162403	1.00[EUR][1000 genomes]
rs12100586	1.00[EUR][1000 genomes]
rs12100598	1.00[EUR][1000 genomes]
rs12100800	1.00[EUR][1000 genomes]
rs12100933	1.00[EUR][1000 genomes]
rs12100943	1.00[EUR][1000 genomes]
rs12101090	1.00[EUR][1000 genomes]
rs12101096	1.00[EUR][1000 genomes]
rs12101201	1.00[EUR][1000 genomes]
rs12101227	1.00[EUR][1000 genomes]
rs17092013	1.00[EUR][1000 genomes]
rs17112807	1.00[EUR][1000 genomes]
rs17112928	1.00[EUR][1000 genomes]
rs17112943	1.00[EUR][1000 genomes]
rs17113273	1.00[EUR][1000 genomes]
rs55747318	1.00[EUR][1000 genomes]
rs55795834	1.00[EUR][1000 genomes]
rs55917840	1.00[EUR][1000 genomes]
rs55980661	1.00[EUR][1000 genomes]
rs55987734	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56294788	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57630159	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58957711	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58964539	1.00[EUR][1000 genomes]
rs59045719	1.00[EUR][1000 genomes]
rs59612537	1.00[EUR][1000 genomes]
rs59800190	1.00[EUR][1000 genomes]
rs60169322	0.89[AMR][1000 genomes]
rs60239610	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60292704	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60508855	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60971353	1.00[EUR][1000 genomes]
rs61626479	1.00[EUR][1000 genomes]
rs7143903	1.00[EUR][1000 genomes]
rs7146539	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7152653	1.00[EUR][1000 genomes]
rs7155848	0.83[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7161484	1.00[EUR][1000 genomes]
rs73571203	1.00[EUR][1000 genomes]
rs73571209	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73571210	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73571212	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73571302	1.00[EUR][1000 genomes]
rs74034305	1.00[EUR][1000 genomes]
rs74034308	1.00[EUR][1000 genomes]
rs74034309	1.00[EUR][1000 genomes]
rs74037158	1.00[EUR][1000 genomes]
rs74037159	1.00[EUR][1000 genomes]
rs74037160	1.00[EUR][1000 genomes]
rs8003273	1.00[EUR][1000 genomes]
rs8010422	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs8018216	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8022560	0.81[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8022642	1.00[EUR][1000 genomes]
rs8022887	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8022889	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8022924	0.89[AMR][1000 genomes];1.00[EUR][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	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

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

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
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