Variant report

Variant	rs4882554
Chromosome Location	chr12:83594264-83594265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4522242	0.87[EUR][1000 genomes]
rs4882562	0.84[EUR][1000 genomes]
rs61931884	0.92[EUR][1000 genomes]
rs67607413	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296128	0.81[EUR][1000 genomes]
rs983059	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv559559	chr12:83505512-83765069	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv899352	chr12:83556258-83671428	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83590600-83594600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:83592800-83595400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:83593000-83594400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:83593000-83597000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:83593200-83595200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:83593200-83596000	Weak transcription	Fetal Lung	lung
7	chr12:83593800-83596400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:83594000-83594800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:83594000-83595600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:83594000-83596200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:83594000-83596400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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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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