Variant report

Variant	rs256947
Chromosome Location	chr5:114973195-114973196
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114971626..114974342-chr5:115178110..115179917,2	K562	blood:
2	chr5:114970607..114973250-chr5:114975290..114977621,2	K562	blood:
3	chr5:114970607..114974645-chr5:114975238..114977621,3	K562	blood:
4	chr5:114970889..114973875-chr5:114975413..114978406,3	MCF-7	breast:
5	chr5:114972992..114975914-chr5:115155123..115157177,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177879	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10055677	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13164545	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13186296	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs171774	0.92[EUR][1000 genomes]
rs2303747	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs256941	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs256942	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256944	0.92[EUR][1000 genomes]
rs256945	0.92[EUR][1000 genomes]
rs256948	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256953	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256962	0.94[ASN][1000 genomes]
rs256964	0.94[EUR][1000 genomes]
rs256967	0.92[EUR][1000 genomes]
rs256969	0.92[EUR][1000 genomes]
rs256988	0.92[EUR][1000 genomes]
rs256991	0.92[EUR][1000 genomes]
rs256993	0.92[EUR][1000 genomes]
rs256997	0.90[EUR][1000 genomes]
rs256998	0.92[EUR][1000 genomes]
rs377290	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3822579	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs400570	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs413059	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs415577	0.92[EUR][1000 genomes]
rs416234	0.94[ASN][1000 genomes]
rs424434	0.94[ASN][1000 genomes]
rs428191	0.92[ASN][1000 genomes]
rs4920967	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62371215	0.81[ASN][1000 genomes]
rs698366	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs698367	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs712550	0.94[ASN][1000 genomes]
rs712551	0.95[ASN][1000 genomes]
rs7702283	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702869	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7702881	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs790824	0.94[ASN][1000 genomes]
rs790825	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9326969	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114970400-114974000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:114970600-114973400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:114970600-114973400	Weak transcription	NHDF-Ad	bronchial
4	chr5:114970600-114974400	Weak transcription	Liver	Liver
5	chr5:114971600-114975400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:114971800-114976800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:114972000-114975600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:114972200-114973600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:114972400-114974000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:114972800-114974400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:114972800-114976800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:114972800-114977000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:114973000-114973400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:114973000-114973400	Bivalent Enhancer	GM12878-XiMat	blood
15	chr5:114973000-114974200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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