Variant report

Variant	rs56216989
Chromosome Location	chr7:124729068-124729069
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124728103..124730281-chr7:124737035..124739420,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10464674	0.85[ASN][1000 genomes]
rs10954065	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11532793	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11534064	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11536526	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12056290	0.80[ASN][1000 genomes]
rs1383748	0.87[ASN][1000 genomes]
rs1568883	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17327014	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17327715	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17387389	0.85[ASN][1000 genomes]
rs2054586	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2293346	0.85[ASN][1000 genomes]
rs36045816	0.81[AFR][1000 genomes]
rs4142718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55723877	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55859595	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55890146	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55905546	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56012154	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56056794	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56069273	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56269941	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56321835	0.81[AFR][1000 genomes]
rs66478705	0.85[ASN][1000 genomes]
rs66756015	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66852389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67146030	0.81[AFR][1000 genomes]
rs67277928	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67607629	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67680878	0.85[ASN][1000 genomes]
rs67817822	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67939974	0.81[AFR][1000 genomes]
rs6945199	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73225498	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73227531	0.84[ASN][1000 genomes]
rs9640831	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv889139	chr7:124600505-124767295	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv464708	chr7:124703756-124805279	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv608344	chr7:124703756-124805279	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv831119	chr7:124714009-124890119	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124728200-124729200	Enhancers	Fetal Heart	heart
2	chr7:124728200-124729800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:124728400-124730000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:124728400-124730000	Enhancers	NHEK	skin
5	chr7:124728600-124730800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:124728600-124731200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:124729000-124731200	Enhancers	HMEC	breast

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