Variant report

Variant	rs11133929
Chromosome Location	chr5:2155168-2155169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10045167	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10056093	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056218	0.96[ASN][1000 genomes]
rs10056351	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10062483	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065589	0.96[ASN][1000 genomes]
rs10068467	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10068538	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10069270	0.96[ASN][1000 genomes]
rs10072352	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10076073	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10076279	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10076280	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11133930	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11133931	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11133932	0.99[ASN][1000 genomes]
rs11746469	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12652492	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12654394	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655177	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16903364	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57251700	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6863477	0.97[ASN][1000 genomes]
rs72710663	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs72710668	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72710682	0.97[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	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv915846	chr5:1891098-2167677	Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv880972	chr5:2146761-2190572	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv880947	chr5:2146761-2251313	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv881232	chr5:2150273-2213762	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2149800-2156400	Weak transcription	Esophagus	oesophagus
2	chr5:2150000-2156400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:2150200-2160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:2151200-2157600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:2151600-2156400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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