Variant report

Variant	rs4773249
Chromosome Location	chr13:111448222-111448223
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:15)

rs_ID	r²[population]
rs4773248	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55900617	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56090785	0.82[EUR][1000 genomes]
rs61969986	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61969987	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9515286	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9515289	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9515290	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9521938	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9521939	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9521941	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9521943	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9521944	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9521945	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9521946	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
3	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
4	nsv1041716	chr13:111378180-111516489	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv541926	chr13:111378180-111516489	Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111446800-111449600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:111447400-111449800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr13:111447600-111449600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:111447600-111449600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:111448000-111449400	Weak transcription	H9 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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