Variant report

Variant	rs4928041
Chromosome Location	chr3:54356832-54356833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12487180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12487976	1.00[EUR][1000 genomes]
rs12487996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12497372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12497704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4072629	1.00[EUR][1000 genomes]
rs4928028	1.00[EUR][1000 genomes]
rs4928038	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4928039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7431613	1.00[EUR][1000 genomes]
rs7616024	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7637538	0.82[AMR][1000 genomes];1.00[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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	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
3	nsv817328	chr3:54250314-54380438	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54344000-54360800	Weak transcription	Psoas Muscle	Psoas
2	chr3:54352800-54357600	Enhancers	Hela-S3	cervix
3	chr3:54354600-54357400	Enhancers	Liver	Liver
4	chr3:54355400-54357200	Enhancers	Fetal Intestine Large	intestine
5	chr3:54355400-54357200	Enhancers	Fetal Intestine Small	intestine
6	chr3:54355600-54357200	Enhancers	Fetal Kidney	kidney
7	chr3:54355600-54357200	Enhancers	Fetal Lung	lung
8	chr3:54355800-54357200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:54355800-54357400	Enhancers	Stomach Mucosa	stomach
10	chr3:54356000-54357200	Enhancers	Colonic Mucosa	Colon
11	chr3:54356000-54357200	Enhancers	HepG2	liver
12	chr3:54356000-54357400	Enhancers	Gastric	stomach
13	chr3:54356000-54357400	Enhancers	Pancreas	Pancrea
14	chr3:54356600-54357000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr3:54356600-54357000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:54356600-54370200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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