Variant report

Variant	rs5753019
Chromosome Location	chr22:30523431-30523432
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	chr22:30515123..30517427-chr22:30522395..30523982,2	MCF-7	breast:
2	chr22:30523289..30525993-chr22:30557345..30559122,2	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1122239	0.83[ASN][1000 genomes]
rs1160671	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12233358	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12484420	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12484547	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484983	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13053389	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13053765	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13054837	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13055998	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13056332	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13056990	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13057204	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13057580	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13057733	0.82[ASN][1000 genomes]
rs13057878	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1476514	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16988123	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16988129	0.81[AFR][1000 genomes]
rs16988145	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16988200	0.81[AFR][1000 genomes]
rs2010916	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2012308	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2106430	0.84[EUR][1000 genomes]
rs2106722	0.95[ASN][1000 genomes]
rs2214047	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2412977	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2412979	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34391152	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34420020	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34474867	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34545612	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35067150	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35361418	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs35539897	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35710453	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36018230	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3788422	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4820825	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4820829	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4823064	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4823067	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4823071	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4823082	0.84[EUR][1000 genomes]
rs5752997	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5753002	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753007	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753013	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753014	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753015	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753020	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753022	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753027	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753028	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753029	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753030	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753046	0.84[EUR][1000 genomes]
rs5763585	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs5763601	0.89[EUR][1000 genomes]
rs5763602	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs5763604	0.89[EUR][1000 genomes]
rs5763606	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs5763609	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs5763629	0.89[EUR][1000 genomes]
rs5763637	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763648	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763662	0.89[EUR][1000 genomes]
rs5763681	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763687	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763695	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763701	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763734	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5763742	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5763746	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5763748	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5763749	0.85[ASN][1000 genomes]
rs5763750	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5763758	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5763759	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5763763	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5763766	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5763769	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5763774	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5763782	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5763787	0.97[ASN][1000 genomes]
rs5763788	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763801	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5763805	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763810	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763825	0.97[ASN][1000 genomes]
rs5763852	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763854	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763861	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763872	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6006393	0.81[ASN][1000 genomes]
rs6519799	0.81[AFR][1000 genomes]
rs71331220	0.89[EUR][1000 genomes]
rs718773	0.97[ASN][1000 genomes]
rs7286304	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7286681	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs739616	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs757026	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs766011	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8138404	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8142101	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs916807	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs975704	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5753019	LGALS8	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30519200-30525400	Weak transcription	A549	lung
2	chr22:30519600-30523800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:30523400-30523600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr22:30523400-30524000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr22:30523400-30526000	Enhancers	Osteobl	bone

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