Variant report

Variant	rs587384
Chromosome Location	chr3:54699893-54699894
allele	C/T
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:12)

rs_ID	r²[population]
rs11707823	0.82[ASN][1000 genomes]
rs515920	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs517729	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs517738	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs521694	0.85[ASN][1000 genomes]
rs527297	0.90[ASN][1000 genomes]
rs550210	0.89[ASN][1000 genomes]
rs578032	0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs589281	0.85[ASN][1000 genomes]
rs604132	0.85[ASN][1000 genomes]
rs652424	0.85[ASN][1000 genomes]
rs838022	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv428084	chr3:54404258-54742756	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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
4	nsv525644	chr3:54653316-54709987	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54685200-54704000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:54691400-54704000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:54693400-54702400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:54694000-54702200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:54694000-54702400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:54694000-54702600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:54694000-54702800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:54695200-54703200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:54695400-54703800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:54695600-54702200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:54695600-54704000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:54696800-54702400	Weak transcription	Fetal Stomach	stomach
13	chr3:54697400-54704200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:54698400-54704200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:54698400-54704600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr3:54699000-54700800	Weak transcription	Psoas Muscle	Psoas
17	chr3:54699400-54704200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:54699800-54700000	Enhancers	Fetal Muscle Trunk	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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