Variant report

Variant	rs11992030
Chromosome Location	chr8:111823281-111823282
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	chr8:111811884..111813878-chr8:111822855..111824615,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11988217	1.00[EUR][1000 genomes]
rs11992740	1.00[EUR][1000 genomes]
rs11994333	1.00[EUR][1000 genomes]
rs16881058	1.00[EUR][1000 genomes]
rs4270933	1.00[EUR][1000 genomes]
rs4276660	1.00[EUR][1000 genomes]
rs57140595	1.00[EUR][1000 genomes]
rs58124990	1.00[EUR][1000 genomes]
rs60351304	1.00[EUR][1000 genomes]
rs6992503	1.00[EUR][1000 genomes]
rs6997576	1.00[EUR][1000 genomes]
rs73315859	1.00[EUR][1000 genomes]
rs73315898	1.00[EUR][1000 genomes]
rs73316607	1.00[EUR][1000 genomes]
rs73317247	1.00[EUR][1000 genomes]
rs73317279	1.00[AMR][1000 genomes]
rs73317294	1.00[EUR][1000 genomes]
rs73317962	1.00[EUR][1000 genomes]
rs73317974	1.00[EUR][1000 genomes]
rs73317977	1.00[EUR][1000 genomes]
rs73319771	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73332950	1.00[EUR][1000 genomes]
rs73332956	1.00[EUR][1000 genomes]
rs73332960	1.00[EUR][1000 genomes]
rs73332962	1.00[AMR][1000 genomes]
rs7463050	1.00[EUR][1000 genomes]
rs7837586	1.00[EUR][1000 genomes]
rs957737	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027659	chr8:111585843-111875753	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv831423	chr8:111672801-111869818	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1031245	chr8:111716585-111875753	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv891294	chr8:111754075-112163801	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1032766	chr8:111779352-111995438	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1030494	chr8:111779352-112421812	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2754849	chr8:111817591-112088992	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111788600-111826200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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