Variant report

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

rs_ID	r²[population]
rs10036396	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10040391	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10063842	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1047577	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12654617	0.81[ASN][1000 genomes]
rs13164561	0.90[ASN][1000 genomes]
rs17832583	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1872623	0.84[ASN][1000 genomes]
rs1963011	0.82[ASN][1000 genomes]
rs2133716	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2334991	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2650285	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34327383	0.87[ASN][1000 genomes]
rs4458584	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56981142	0.85[ASN][1000 genomes]
rs59542146	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6882209	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6886539	0.85[ASN][1000 genomes]
rs6889184	0.84[ASN][1000 genomes]
rs7703727	0.87[ASN][1000 genomes]
rs7708299	0.94[ASN][1000 genomes]
rs7731783	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[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	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
2	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv969021	chr5:177060702-177111251	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11249619	FAM153A	cis	Heart Left Ventricle	GTEx
rs11249619	B4GALT7	cis	Whole Blood	GTEx
rs11249619	RP11-1101H11.1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177046800-177084000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr5:177048800-177083600	Weak transcription	Fetal Lung	lung
3	chr5:177052000-177083200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:177052000-177085600	Weak transcription	Gastric	stomach
5	chr5:177054000-177084600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr5:177054400-177096000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:177066800-177083000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:177067000-177084000	Weak transcription	Dnd41	blood
9	chr5:177067200-177083200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:177068800-177081600	Weak transcription	Ovary	ovary
11	chr5:177068800-177085600	Weak transcription	Lung	lung
12	chr5:177068800-177091800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:177076800-177098200	Weak transcription	Fetal Stomach	stomach
14	chr5:177077000-177081600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:177077000-177098200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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