Variant report

Variant	rs67519609
Chromosome Location	chr3:139626808-139626809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13075848	1.00[ASN][1000 genomes]
rs13078412	1.00[ASN][1000 genomes]
rs1426049	1.00[ASN][1000 genomes]
rs16849580	1.00[ASN][1000 genomes]
rs16849587	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16849589	1.00[EUR][1000 genomes]
rs17336463	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17396186	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34115058	0.97[ASN][1000 genomes]
rs34115695	1.00[ASN][1000 genomes]
rs34215743	1.00[ASN][1000 genomes]
rs35514405	1.00[ASN][1000 genomes]
rs56376034	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58483289	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61028949	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61307789	1.00[ASN][1000 genomes]
rs67174788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67452190	1.00[EUR][1000 genomes]
rs6786799	0.91[EUR][1000 genomes]
rs73224920	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73224938	0.91[EUR][1000 genomes]
rs73224940	0.91[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	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv916193	chr3:139187767-139821526	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv530058	chr3:139243971-139814419	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv998423	chr3:139526446-139947336	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139623200-139628400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:139624600-139627000	Enhancers	HMEC	breast
3	chr3:139624800-139632400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:139625200-139628400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:139625600-139628600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:139625600-139632800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:139625800-139628400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:139626600-139627000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:139626800-139629200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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