Variant report

Variant	rs61265542
Chromosome Location	chr12:39032287-39032288
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506123	0.81[EUR][1000 genomes]
rs12578804	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12579377	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12580606	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12580974	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12581826	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12582242	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17126226	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3759140	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57022911	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57240072	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57501178	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58353662	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58654934	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58895802	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59103577	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59143762	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59914796	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59937464	0.81[EUR][1000 genomes]
rs59996410	0.95[ASN][1000 genomes]
rs60195018	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60305068	0.96[ASN][1000 genomes]
rs60958114	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7297083	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7316085	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs826842	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422488	chr12:38103874-39070734	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv469356	chr12:38242029-39187408	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv558574	chr12:38242029-39187408	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1039538	chr12:38640895-39180750	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1039821	chr12:38959645-39121578	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1053316	chr12:38959645-39122853	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1043831	chr12:38979065-39117868	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv541479	chr12:38979065-39117868	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39030800-39035000	Weak transcription	Esophagus	oesophagus
2	chr12:39031800-39032600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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