Variant report

Variant	rs73116441
Chromosome Location	chr12:42668112-42668113
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10160853	1.00[EUR][1000 genomes]
rs10506175	1.00[EUR][1000 genomes]
rs11181360	1.00[EUR][1000 genomes]
rs11181373	1.00[EUR][1000 genomes]
rs12297206	1.00[EUR][1000 genomes]
rs12300188	1.00[EUR][1000 genomes]
rs12312515	1.00[EUR][1000 genomes]
rs12315471	1.00[EUR][1000 genomes]
rs12317772	1.00[EUR][1000 genomes]
rs12318401	1.00[EUR][1000 genomes]
rs17091117	0.83[ASN][1000 genomes]
rs17121217	0.83[ASN][1000 genomes]
rs1987127	1.00[EUR][1000 genomes]
rs2406566	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3810787	0.83[ASN][1000 genomes]
rs57653125	0.81[ASN][1000 genomes]
rs59402225	0.90[ASN][1000 genomes]
rs59876649	1.00[EUR][1000 genomes]
rs60278477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60287587	1.00[EUR][1000 genomes]
rs60870773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61647009	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73114487	1.00[EUR][1000 genomes]
rs73114498	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73116429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73116432	1.00[EUR][1000 genomes]
rs73118500	0.83[ASN][1000 genomes]
rs73120410	0.83[ASN][1000 genomes]
rs73120468	0.83[ASN][1000 genomes]
rs73124495	0.90[ASN][1000 genomes]
rs73127416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73127418	1.00[EUR][1000 genomes]
rs73127421	1.00[EUR][1000 genomes]
rs73127428	1.00[EUR][1000 genomes]
rs73127435	1.00[EUR][1000 genomes]
rs73127445	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73131138	1.00[EUR][1000 genomes]
rs73131166	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv826351	chr12:42584218-42676281	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv826352	chr12:42593124-42675255	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 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	chr12:42668000-42668400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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