Variant report

Variant	rs1870092
Chromosome Location	chr19:42331992-42331993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42314336..42316097-chr19:42330529..42333145,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10401370	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10401528	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10401928	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10404939	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10407206	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10407619	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10407797	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10408367	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.92[LWK][hapmap];0.98[TSI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10410918	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10414356	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10414823	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10416824	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10417985	1.00[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.80[LWK][hapmap]
rs10418100	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10419111	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10419827	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10426049	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10426243	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10500284	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12461099	0.81[ASN][1000 genomes]
rs12461131	0.81[ASN][1000 genomes]
rs12971550	0.80[ASN][1000 genomes]
rs12976571	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12979253	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12984383	1.00[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs1366610	1.00[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs1457144	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1811564	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1870093	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2008798	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2008808	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2075749	0.81[ASN][1000 genomes]
rs2075750	1.00[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap]
rs2075752	1.00[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap]
rs2075754	1.00[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap]
rs2199829	0.85[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2199830	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2290695	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.80[LWK][hapmap];0.99[ASN][1000 genomes]
rs2305809	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs28821622	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28824227	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28847113	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34819714	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3786536	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs3786538	1.00[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs3795022	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3810153	0.82[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap]
rs3922888	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4130852	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4480913	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4803511	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4803512	0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.94[ASN][1000 genomes]
rs58857981	0.81[ASN][1000 genomes]
rs62117403	0.86[EUR][1000 genomes]
rs6508998	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6508999	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6509000	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6509001	0.96[ASN][1000 genomes]
rs6509002	0.91[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7248641	0.99[ASN][1000 genomes]
rs7250787	0.81[ASN][1000 genomes]
rs7251154	0.89[CEU][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs7251336	1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7251783	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7251799	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7251960	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs7252877	0.93[ASN][1000 genomes]
rs7254214	1.00[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.88[LWK][hapmap];0.81[ASN][1000 genomes]
rs7257666	0.82[ASN][1000 genomes]
rs7258053	0.83[EUR][1000 genomes]
rs7259596	0.81[ASN][1000 genomes]
rs7259967	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs734107	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs734109	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73549152	0.81[ASN][1000 genomes]
rs8099934	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8100182	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8104958	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs8106505	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8110199	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8113283	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8113538	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8113641	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8113720	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8113741	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8113780	0.99[ASN][1000 genomes]
rs8113813	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs873282	1.00[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs882520	0.82[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap]
rs891167	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs899662	0.92[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.92[LWK][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv960847	chr19:42319253-42339596	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1061878	chr19:42325490-42416056	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1870092	PSG3	cis	multi-tissue	Pritchard
rs1870092	PSG9	cis	multi-tissue	Pritchard
rs1870092	CEACAM3	cis	multi-tissue	Pritchard

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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