Variant report

Variant	rs7999912
Chromosome Location	chr13:76597642-76597643
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	chr13:76596252..76598622-chr13:76601248..76603382,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1074098	0.82[ASN][1000 genomes]
rs1119198	0.88[ASN][1000 genomes]
rs11619151	0.88[ASN][1000 genomes]
rs1461986	0.88[ASN][1000 genomes]
rs1576532	0.88[ASN][1000 genomes]
rs28605869	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28607151	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4288884	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4427681	0.88[ASN][1000 genomes]
rs715894	0.88[ASN][1000 genomes]
rs715895	0.88[ASN][1000 genomes]
rs7330847	0.88[ASN][1000 genomes]
rs7983891	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7985763	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7991027	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7997251	0.88[ASN][1000 genomes]
rs7998455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318391	0.88[ASN][1000 genomes]
rs9318392	0.88[ASN][1000 genomes]
rs9565222	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9565223	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573727	0.88[ASN][1000 genomes]
rs9573735	0.88[ASN][1000 genomes]
rs9573745	0.86[ASN][1000 genomes]
rs9593152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600634	0.88[ASN][1000 genomes]
rs9600635	0.88[ASN][1000 genomes]
rs9635003	0.88[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	nsv832649	chr13:76424872-76657891	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1054431	chr13:76460431-76885094	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541837	chr13:76460431-76885094	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76589400-76601400	Weak transcription	K562	blood
2	chr13:76594200-76601200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr13:76594400-76598000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:76594400-76601400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:76596600-76598000	Enhancers	Fetal Heart	heart
6	chr13:76597000-76598000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:76597000-76598400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:76597000-76598400	Enhancers	HMEC	breast
9	chr13:76597400-76597800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:76597400-76598200	Enhancers	NHEK	skin
11	chr13:76597600-76597800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr13:76597600-76601200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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