Variant report

Variant	rs2724690
Chromosome Location	chr3:137848709-137848710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:137846713..137849373-chr3:137854180..137855933,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1137760	0.81[EUR][1000 genomes]
rs1564496	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1600697	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2170309	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2219936	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2246945	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2251550	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2346744	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2346745	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2346747	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2622694	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2622695	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2622696	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2622697	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2622699	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2622732	0.81[EUR][1000 genomes]
rs2622733	0.82[EUR][1000 genomes]
rs2622735	0.82[EUR][1000 genomes]
rs2622736	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2622737	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2622739	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2622740	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2622742	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2622743	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2622744	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2724691	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2724692	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2724710	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2724711	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2724712	0.82[EUR][1000 genomes]
rs2724725	0.83[EUR][1000 genomes]
rs2724726	0.81[EUR][1000 genomes]
rs2724727	0.81[EUR][1000 genomes]
rs329380	0.81[EUR][1000 genomes]
rs3732839	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4678403	0.80[AMR][1000 genomes]
rs7430414	0.82[AMR][1000 genomes]
rs7613041	0.81[EUR][1000 genomes]
rs7613558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7632402	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs811811	0.81[EUR][1000 genomes]
rs9827617	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9840008	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9851548	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9874211	0.83[AMR][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	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2757890	chr3:137611789-137933835	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759180	chr3:137611789-137933835	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2751978	chr3:137715302-137890750	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2724690	A4GNT	cis	Artery Tibial	GTEx
rs2724690	A4GNT	cis	Adipose Subcutaneous	GTEx
rs2724690	A4GNT	cis	lung	GTEx
rs2724690	A4GNT	cis	Nerve Tibial	GTEx
rs2724690	A4GNT	cis	Skin Sun Exposed Lower leg	GTEx
rs2724690	DBR1	Cis_1M	lymphoblastoid	RTeQTL
rs2724690	A4GNT	cis	Thyroid	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137843800-137851800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:137844800-137851000	Weak transcription	Stomach Mucosa	stomach
3	chr3:137845000-137851000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:137845200-137853200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:137847400-137849800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:137847800-137849800	Weak transcription	Pancreas	Pancrea
7	chr3:137847800-137851200	Active TSS	Fetal Stomach	stomach

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