Variant report

Variant	rs61949038
Chromosome Location	chr12:86623720-86623721
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12304593	0.81[AMR][1000 genomes]
rs12305255	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12306726	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12316480	0.81[AMR][1000 genomes]
rs1389296	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17284129	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17284624	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17284820	1.00[AFR][1000 genomes]
rs17359446	0.86[AMR][1000 genomes]
rs4586245	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4842541	1.00[AFR][1000 genomes]
rs55649116	0.81[AMR][1000 genomes]
rs55733909	0.81[AMR][1000 genomes]
rs55832610	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55886852	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55956857	0.86[AMR][1000 genomes]
rs55998036	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56154427	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs57624840	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58024273	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59623111	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61931157	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61932264	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61932265	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61932266	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61932268	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61932269	1.00[AFR][1000 genomes]
rs61932271	1.00[AFR][1000 genomes]
rs61932272	1.00[AFR][1000 genomes]
rs61932274	1.00[AFR][1000 genomes]
rs61932275	1.00[AFR][1000 genomes]
rs61948967	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61948994	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61949011	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61949013	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61949036	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61949037	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61949039	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61949041	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61949045	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61949047	0.83[AMR][1000 genomes]
rs61949048	0.91[AMR][1000 genomes]
rs61949049	0.91[AMR][1000 genomes]
rs61950663	0.91[AMR][1000 genomes]
rs61950665	0.91[AMR][1000 genomes]
rs61950667	0.86[AMR][1000 genomes]
rs61950671	0.86[AMR][1000 genomes]
rs61950674	0.86[AMR][1000 genomes]
rs61950706	0.83[AMR][1000 genomes]
rs7487426	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs767898	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1053087	chr12:86569126-86733418	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541564	chr12:86569126-86733418	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1037003	chr12:86610040-86798121	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1045386	chr12:86616015-86733418	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv541565	chr12:86616015-86733418	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr12:86614000-86625600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:86622200-86624800	Enhancers	HUVEC	blood vessel
3	chr12:86622600-86625400	Enhancers	Hela-S3	cervix
4	chr12:86622800-86623800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:86622800-86623800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:86622800-86624000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:86623600-86624600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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