Variant report

Variant	rs55891447
Chromosome Location	chr12:32826681-32826682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11052134	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11052136	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12366836	1.00[ASN][1000 genomes]
rs12579412	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12580531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815754	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821132	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34032717	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56331606	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56373028	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67215596	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67335394	0.81[ASN][1000 genomes]
rs67573810	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302961	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047658	chr12:32792554-32835646	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541457	chr12:32792554-32835646	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription 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	9 gene(s)	inside rSNPs	diseases
3	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32824800-32831800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:32825200-32827000	Weak transcription	Placenta	Placenta
3	chr12:32825200-32827000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:32825400-32827000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:32825600-32827000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:32825600-32827000	Weak transcription	GM12878-XiMat	blood
7	chr12:32825600-32827200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:32825600-32827600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:32825600-32831800	Weak transcription	Fetal Thymus	thymus
10	chr12:32825800-32831800	Weak transcription	Adipose Nuclei	Adipose
11	chr12:32826000-32831200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:32826000-32831800	Weak transcription	Brain Germinal Matrix	brain
13	chr12:32826000-32831800	Weak transcription	Fetal Muscle Leg	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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