Variant report

Variant	rs56001945
Chromosome Location	chr13:54879990-54879991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10162244	0.87[EUR][1000 genomes]
rs11839344	0.87[EUR][1000 genomes]
rs13378146	0.87[EUR][1000 genomes]
rs17089381	0.87[EUR][1000 genomes]
rs2818210	0.94[AFR][1000 genomes]
rs4638450	0.87[EUR][1000 genomes]
rs56095790	0.87[EUR][1000 genomes]
rs73490507	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9591578	0.87[EUR][1000 genomes]
rs9591579	0.87[EUR][1000 genomes]
rs9591582	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9596942	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596944	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9596945	0.87[EUR][1000 genomes]
rs9596946	0.87[EUR][1000 genomes]
rs9596948	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv471132	chr13:54788842-54885744	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54875400-54881400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
2	chr13:54875800-54880600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr13:54878400-54880000	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr13:54878400-54881000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr13:54878800-54880000	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr13:54878800-54880000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:54878800-54880000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr13:54878800-54881400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:54878800-54881600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
10	chr13:54879000-54881600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr13:54879800-54880000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr13:54879800-54880000	Genic enhancers	H9 Cell Line	embryonic stem cell
13	chr13:54879800-54881600	Genic enhancers	HUES64 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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