Variant report

Variant	rs72872241
Chromosome Location	chr3:54744594-54744595
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57865832	1.00[AFR][1000 genomes]
rs72870607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72870609	1.00[AMR][1000 genomes]
rs72870668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72870684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72870700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72872252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72872301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874221	1.00[AMR][1000 genomes]
rs72874223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874234	1.00[AMR][1000 genomes]
rs72874238	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv834700	chr3:54637374-54803896	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	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	chr3:54741600-54746400	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:54742200-54745400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:54743400-54744600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:54743400-54745200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr3:54743600-54744800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr3:54743600-54745400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:54743800-54745400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:54743800-54745800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr3:54743800-54751400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:54744200-54744600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr3:54744200-54744600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:54744400-54744600	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr3:54744400-54745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:54744400-54745200	Enhancers	Duodenum Mucosa	Duodenum

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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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