Variant report

Variant	rs4638450
Chromosome Location	chr13:54892050-54892051
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10162244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11839344	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13378144	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13378146	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17089381	1.00[EUR][1000 genomes]
rs17089389	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56001945	0.87[EUR][1000 genomes]
rs56095790	1.00[EUR][1000 genomes]
rs73490507	1.00[EUR][1000 genomes]
rs9285196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9536680	0.84[AFR][1000 genomes]
rs9591578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591579	1.00[EUR][1000 genomes]
rs9591582	1.00[EUR][1000 genomes]
rs9596942	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9596944	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596945	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596946	1.00[EUR][1000 genomes]
rs9596948	0.83[AMR][1000 genomes];1.00[EUR][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	esv3375545	chr13:54517432-54908108	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1051063	chr13:54777487-54997866	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv541778	chr13:54777487-54997866	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54880000-54929800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:54889800-54898400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:54891000-54892600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr13:54891200-54892200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr13:54891200-54892200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr13:54891200-54893200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr13:54891400-54892600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr13:54891400-54892600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:54891600-54892600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:54891600-54893600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:54891800-54892200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr13:54892000-54892400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr13:54892000-54892800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
14	chr13:54892000-54893400	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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