Variant report

Variant	rs5763763
Chromosome Location	chr22:30488627-30488628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr22:30488455-30488706	K562	blood:	n/a	n/a

Variant related genes	Relation type
HORMAD2	TF binding region

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1122239	0.86[ASN][1000 genomes]
rs1160671	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12233358	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12484420	0.89[EUR][1000 genomes]
rs12484547	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12484983	0.89[EUR][1000 genomes]
rs13053389	0.89[EUR][1000 genomes]
rs13053765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13054837	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13055998	1.00[EUR][1000 genomes]
rs13056332	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13056990	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13057204	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13057580	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13057733	0.85[ASN][1000 genomes]
rs13057878	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1476514	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16988123	0.89[EUR][1000 genomes]
rs16988145	0.89[EUR][1000 genomes]
rs2010916	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2012308	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2106430	0.84[EUR][1000 genomes]
rs2106722	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2214047	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2412977	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2412979	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34391152	0.84[EUR][1000 genomes]
rs34420020	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34474867	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34545612	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35067150	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35361418	0.84[EUR][1000 genomes]
rs35539897	0.84[EUR][1000 genomes]
rs35710453	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36018230	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3788422	0.89[EUR][1000 genomes]
rs4820825	0.89[EUR][1000 genomes]
rs4820829	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4823064	0.89[EUR][1000 genomes]
rs4823067	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4823071	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4823082	0.84[EUR][1000 genomes]
rs5752976	0.89[EUR][1000 genomes]
rs5752997	0.89[EUR][1000 genomes]
rs5753002	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753007	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753013	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753014	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753015	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753019	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753020	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753022	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753027	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753028	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753029	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753030	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753046	0.84[EUR][1000 genomes]
rs5763566	0.89[EUR][1000 genomes]
rs5763569	0.89[EUR][1000 genomes]
rs5763585	0.89[EUR][1000 genomes]
rs5763601	0.89[EUR][1000 genomes]
rs5763602	0.89[EUR][1000 genomes]
rs5763604	0.89[EUR][1000 genomes]
rs5763606	0.89[EUR][1000 genomes]
rs5763609	0.89[EUR][1000 genomes]
rs5763629	0.89[EUR][1000 genomes]
rs5763637	0.89[EUR][1000 genomes]
rs5763648	0.89[EUR][1000 genomes]
rs5763662	0.89[EUR][1000 genomes]
rs5763681	0.89[EUR][1000 genomes]
rs5763687	0.89[EUR][1000 genomes]
rs5763695	0.89[EUR][1000 genomes]
rs5763701	1.00[EUR][1000 genomes]
rs5763734	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763742	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5763746	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5763748	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5763749	0.88[ASN][1000 genomes]
rs5763750	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763758	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763759	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763766	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763769	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763774	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763782	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763787	0.94[ASN][1000 genomes]
rs5763788	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5763801	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763805	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5763810	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5763825	0.94[ASN][1000 genomes]
rs5763852	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763854	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763861	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763872	0.84[EUR][1000 genomes]
rs71331220	0.89[EUR][1000 genomes]
rs718773	1.00[ASN][1000 genomes]
rs7286304	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7286681	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739616	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs757026	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs766011	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8138404	0.89[EUR][1000 genomes]
rs8142101	0.89[EUR][1000 genomes]
rs916807	0.81[EUR][1000 genomes]
rs975704	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5763763	LGALS8	trans	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30483800-30493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:30488600-30488800	Bivalent/Poised TSS	NHDF-Ad	bronchial

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