Variant report

Variant	rs12957312
Chromosome Location	chr18:29397798-29397799
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12954302	0.93[AFR][1000 genomes]
rs12964359	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12967431	1.00[ASN][1000 genomes]
rs12967606	1.00[ASN][1000 genomes]
rs12967642	1.00[ASN][1000 genomes]
rs1630405	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1680645	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17661987	1.00[ASN][1000 genomes]
rs17718389	1.00[ASN][1000 genomes]
rs17718513	1.00[ASN][1000 genomes]
rs34329580	1.00[ASN][1000 genomes]
rs34959937	1.00[ASN][1000 genomes]
rs35129944	1.00[ASN][1000 genomes]
rs35217404	1.00[ASN][1000 genomes]
rs35271356	1.00[ASN][1000 genomes]
rs35703749	1.00[ASN][1000 genomes]
rs501570	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs616082	1.00[ASN][1000 genomes]
rs66534107	1.00[ASN][1000 genomes]
rs668996	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71361333	1.00[ASN][1000 genomes]
rs71361335	1.00[ASN][1000 genomes]
rs71361336	1.00[ASN][1000 genomes]
rs71361341	1.00[ASN][1000 genomes]
rs71361344	1.00[ASN][1000 genomes]
rs71361345	1.00[ASN][1000 genomes]
rs71361358	1.00[ASN][1000 genomes]
rs71361360	1.00[ASN][1000 genomes]
rs7241408	0.87[AFR][1000 genomes]
rs73409433	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411554	1.00[ASN][1000 genomes]
rs8083292	1.00[ASN][1000 genomes]
rs8083894	1.00[ASN][1000 genomes]
rs8084382	1.00[ASN][1000 genomes]
rs8084675	1.00[ASN][1000 genomes]
rs9952659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv2247	chr18:29370842-29415712	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29388800-29401800	Weak transcription	Right Atrium	heart
2	chr18:29390200-29401400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:29392000-29399000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr18:29392000-29405200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:29394400-29418200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:29396200-29398000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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