Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10489274	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10798242	0.83[EUR][1000 genomes]
rs10798243	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10912497	0.81[EUR][1000 genomes]
rs10912499	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12035082	0.81[EUR][1000 genomes]
rs12037203	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12037606	0.81[EUR][1000 genomes]
rs12407389	0.82[EUR][1000 genomes]
rs1894636	0.82[EUR][1000 genomes]
rs2179425	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2206364	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2213746	0.82[EUR][1000 genomes]
rs2422260	0.82[EUR][1000 genomes]
rs4145469	0.83[CEU][hapmap];0.90[GIH][hapmap];0.81[MEX][hapmap];0.80[EUR][1000 genomes]
rs4916199	0.82[EUR][1000 genomes]
rs4916286	0.81[EUR][1000 genomes]
rs6674470	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6688532	0.83[CEU][hapmap];0.90[GIH][hapmap];0.95[MEX][hapmap];0.81[EUR][1000 genomes]
rs7517726	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs926472	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs926473	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs926474	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9283384	0.83[AMR][1000 genomes];0.86[EUR][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	nsv831904	chr1:172912110-173070429	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6425189	C1orf114	cis	parietal	SCAN
rs6425189	SNORD47	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172928800-172930200	Enhancers	Colon Smooth Muscle	Colon
2	chr1:172928800-172930600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:172928800-172930600	Enhancers	Liver	Liver
4	chr1:172928800-172930800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:172929000-172930200	Enhancers	NHLF	lung
6	chr1:172929200-172930200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:172929400-172930200	Enhancers	NHEK	skin
8	chr1:172929600-172930200	Enhancers	Fetal Stomach	stomach
9	chr1:172929800-172938200	Weak transcription	HSMMtube	muscle
10	chr1:172930000-172931800	Weak transcription	NHDF-Ad	bronchial
11	chr1:172930000-172933800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:172930000-172935400	Weak transcription	HUVEC	blood vessel
13	chr1:172930000-172935800	Weak transcription	A549	lung
14	chr1:172930000-172936000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:172930000-172937200	Weak transcription	Placenta Amnion	Placenta Amnion

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