Variant report

Variant	rs2785948
Chromosome Location	chr13:54908651-54908652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1932909	0.84[EUR][1000 genomes]
rs2818212	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2818213	0.81[EUR][1000 genomes]
rs4883901	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4883902	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4884960	0.84[EUR][1000 genomes]
rs4884965	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7139767	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7333655	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7334273	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7338467	0.86[EUR][1000 genomes]
rs9527192	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9536680	0.81[EUR][1000 genomes]
rs9563213	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9569017	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9569018	0.83[AMR][1000 genomes];0.89[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	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
2	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
3	esv3349795	chr13:54892694-55252030	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr13:54880000-54929800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:54892800-54923000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:54904000-54910200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr13:54905200-54910400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:54905400-54928400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr13:54907000-54910400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:54908200-54909600	Weak transcription	HUES6 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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