Variant report

Variant	rs56004004
Chromosome Location	chr13:54962330-54962331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs4517664	0.87[EUR][1000 genomes]
rs55970996	0.87[EUR][1000 genomes]
rs57955841	0.87[EUR][1000 genomes]
rs7139550	1.00[ASN][1000 genomes]
rs7328532	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331152	1.00[ASN][1000 genomes]
rs7336890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7984545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7994125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	chr13:54961200-54962600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
2	chr13:54961400-54962400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
3	chr13:54961600-54962400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr13:54961600-54963800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr13:54961800-54963400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:54962000-54962400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr13:54962000-54962400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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