Variant report

Variant	rs72710668
Chromosome Location	chr5:2157789-2157790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:2157501..2159114-chr5:2160612..2162756,2	K562	blood:
2	chr5:2151523..2154328-chr5:2155802..2158524,2	K562	blood:
3	chr17:57920977..57923515-chr5:2156185..2159175,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10045167	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10056093	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056218	0.96[ASN][1000 genomes]
rs10056351	0.96[ASN][1000 genomes]
rs10062483	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065589	0.96[ASN][1000 genomes]
rs10068467	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10068538	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10069270	0.96[ASN][1000 genomes]
rs10072352	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10076073	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10076279	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10076280	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11133929	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133930	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11133931	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11133932	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11746469	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12652492	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12654394	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655177	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16903364	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57251700	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6863477	0.97[ASN][1000 genomes]
rs72710663	0.94[ASN][1000 genomes]
rs72710682	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2150200-2160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:2156400-2158000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:2156400-2159200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:2156400-2159200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:2157600-2157800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:2157600-2157800	Flanking Active TSS	NHEK	skin
7	chr5:2157600-2158600	Enhancers	Esophagus	oesophagus

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