Variant report

Variant	rs12947514
Chromosome Location	chr17:20958096-20958097
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20945932..20947576-chr17:20957945..20959454,2	MCF-7	breast:
2	chr17:20944661..20948274-chr17:20957497..20962088,5	MCF-7	breast:
3	chr17:20952641..20955684-chr17:20955764..20958455,3	MCF-7	breast:
4	chr17:20944181..20948494-chr17:20954104..20959819,7	K562	blood:
5	chr17:20945058..20948462-chr17:20956958..20959883,3	K562	blood:

Variant related genes	Relation type
ENSG00000124422	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10153263	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512422	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11541314	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650653	0.82[ASN][1000 genomes]
rs11869201	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11869217	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11869959	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12450389	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452171	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12937950	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16962364	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1871275	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2127096	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886049	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34354508	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35022634	0.82[ASN][1000 genomes]
rs4381653	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4427861	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985942	0.82[ASN][1000 genomes]
rs4985945	0.82[ASN][1000 genomes]
rs55633111	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57522885	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6587107	0.82[ASN][1000 genomes]
rs6587113	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6587116	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66487709	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66516868	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs719094	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73303698	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8072149	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8080321	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs984007	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9893047	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9895277	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9895618	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9896853	0.82[ASN][1000 genomes]
rs9907786	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9909279	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914758	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914916	0.82[ASN][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	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv827917	chr17:20896100-20961777	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20954400-20958400	Enhancers	Primary B cells from peripheral blood	blood
2	chr17:20955800-20961600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:20956200-20961800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr17:20956400-20958400	Enhancers	GM12878-XiMat	blood
5	chr17:20956400-20961800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr17:20957000-20958400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr17:20957600-20961800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr17:20957600-20963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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