Variant report

Variant	rs4593974
Chromosome Location	chr11:94251335-94251336
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94248605..94250717-chr11:94251159..94253101,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1014666	0.81[EUR][1000 genomes]
rs1270146	0.81[EUR][1000 genomes]
rs2508460	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2508782	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2508784	0.80[EUR][1000 genomes]
rs2509321	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2509324	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2509943	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4342993	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs472344	0.81[EUR][1000 genomes]
rs473297	0.81[EUR][1000 genomes]
rs475531	0.80[EUR][1000 genomes]
rs482629	0.80[EUR][1000 genomes]
rs484590	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs486556	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs489200	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs492001	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs493982	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs496190	0.81[EUR][1000 genomes]
rs496797	0.81[EUR][1000 genomes]
rs497763	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs500558	0.80[EUR][1000 genomes]
rs524350	0.81[EUR][1000 genomes]
rs525057	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs525921	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs536768	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs544337	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs547207	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs553634	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs571044	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs582049	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs582077	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs595127	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs610899	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs612075	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs612632	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs614424	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs621562	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs628079	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs628164	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs628728	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs629119	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs629156	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs642744	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs647249	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs659349	0.82[AMR][1000 genomes]
rs659489	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs662572	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs682213	0.80[EUR][1000 genomes]
rs684507	0.81[EUR][1000 genomes]
rs693815	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs695093	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv993276	chr11:94248944-94251829	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs4593974	MRE11A	cis	Adipose Subcutaneous	GTEx
rs4593974	MRE11A	cis	Esophagus Mucosa	GTEx
rs4593974	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs4593974	MRE11A	cis	Artery Tibial	GTEx
rs4593974	MRE11A	cis	Heart Left Ventricle	GTEx
rs4593974	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs4593974	MRE11A	cis	lung	GTEx
rs4593974	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs4593974	MRE11A	cis	Nerve Tibial	GTEx
rs4593974	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs4593974	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs4593974	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs4593974	MRE11A	cis	Esophagus Muscularis	GTEx
rs4593974	RP11-685N10.1	cis	lung	GTEx
rs4593974	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs4593974	RP11-685N10.1	cis	Artery Tibial	GTEx
rs4593974	MRE11A	cis	Thyroid	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94246000-94267400	Weak transcription	Aorta	Aorta
2	chr11:94246200-94252800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:94246800-94252800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:94246800-94252800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:94246800-94259000	Weak transcription	Stomach Mucosa	stomach
6	chr11:94247200-94258800	Weak transcription	Fetal Intestine Small	intestine

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