Variant report

Variant	rs1889025
Chromosome Location	chr1:184223708-184223709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1006198	0.93[ASN][1000 genomes]
rs10797946	0.87[ASN][1000 genomes]
rs10797947	0.82[ASN][1000 genomes]
rs10911530	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10911531	0.84[ASN][1000 genomes]
rs10911532	0.82[EUR][1000 genomes]
rs10911555	0.91[CHB][hapmap]
rs11585071	0.82[CHB][hapmap]
rs11806061	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12120085	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12136077	0.86[ASN][1000 genomes]
rs12139463	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12139516	0.86[ASN][1000 genomes]
rs1327139	0.84[ASN][1000 genomes]
rs1327147	0.83[ASN][1000 genomes]
rs1409809	0.84[ASN][1000 genomes]
rs1571972	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1831055	0.84[ASN][1000 genomes]
rs1831056	0.84[ASN][1000 genomes]
rs1854086	0.85[ASN][1000 genomes]
rs1889026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081401	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2081402	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2081403	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2151172	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2161988	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2216932	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2378824	0.86[ASN][1000 genomes]
rs2378825	0.84[ASN][1000 genomes]
rs2378841	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2840274	0.90[ASN][1000 genomes]
rs4292918	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4428848	0.91[CHB][hapmap]
rs4650663	0.86[ASN][1000 genomes]
rs4650664	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4651186	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4651189	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4651190	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4651191	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4651193	0.90[ASN][1000 genomes]
rs4651195	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4651197	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4651200	0.91[CHB][hapmap]
rs4990766	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56308906	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6424933	0.82[ASN][1000 genomes]
rs6424934	0.82[ASN][1000 genomes]
rs6424940	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6667352	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6676366	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6678460	0.90[ASN][1000 genomes]
rs6689088	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs714625	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7530243	1.00[CHB][hapmap]
rs7549600	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs932993	0.87[CHB][hapmap]
rs963234	0.91[CHB][hapmap]
rs9787399	0.91[CHB][hapmap]
rs9803635	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9803849	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9803931	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9804048	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1889025	RGL1	cis	parietal	SCAN
rs1889025	RSL1D1	trans	cerebellum	SCAN
rs1889025	RALGPS2	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184212200-184229400	Weak transcription	NHLF	lung
2	chr1:184223200-184224400	Enhancers	Fetal Heart	heart
3	chr1:184223200-184225400	Enhancers	HSMMtube	muscle
4	chr1:184223600-184223800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:184223600-184224800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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