Variant report

Variant	rs72818619
Chromosome Location	chr10:96687981-96687982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10509679	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1074145	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12569735	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12569850	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12571421	0.83[EUR][1000 genomes]
rs12572071	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12572085	0.91[EUR][1000 genomes]
rs12572351	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12572373	0.87[ASN][1000 genomes]
rs12572588	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12573074	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12763230	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12767583	0.81[EUR][1000 genomes]
rs12768009	0.83[EUR][1000 genomes]
rs12768857	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12769205	0.83[EUR][1000 genomes]
rs12769684	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12772672	0.85[EUR][1000 genomes]
rs12775283	0.93[EUR][1000 genomes]
rs12775707	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12778026	0.83[EUR][1000 genomes]
rs12778966	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12782374	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12783288	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12785201	0.90[ASN][1000 genomes]
rs1322179	0.91[EUR][1000 genomes]
rs1578438	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1853205	0.91[EUR][1000 genomes]
rs2093434	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2181097	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2298037	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28371675	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28399513	0.93[EUR][1000 genomes]
rs2860903	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28969381	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34058919	0.89[EUR][1000 genomes]
rs34121168	0.85[EUR][1000 genomes]
rs34416068	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34532201	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34607361	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35059536	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35126593	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35390752	0.83[EUR][1000 genomes]
rs35391887	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35406621	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35446233	0.85[ASN][1000 genomes]
rs35626865	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35709381	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35751085	0.83[EUR][1000 genomes]
rs3740505	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3758580	0.93[EUR][1000 genomes]
rs4244285	0.83[EUR][1000 genomes]
rs4417205	0.91[EUR][1000 genomes]
rs4445573	0.91[EUR][1000 genomes]
rs4589212	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4641393	0.85[EUR][1000 genomes]
rs4986894	0.81[EUR][1000 genomes]
rs56229007	0.85[EUR][1000 genomes]
rs58447435	0.83[EUR][1000 genomes]
rs6583954	0.83[EUR][1000 genomes]
rs67345186	0.88[ASN][1000 genomes]
rs67892147	0.88[ASN][1000 genomes]
rs71482318	0.83[EUR][1000 genomes]
rs71482322	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7476934	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7897904	0.96[EUR][1000 genomes]
rs7910879	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7911008	0.85[EUR][1000 genomes]
rs7911654	0.93[EUR][1000 genomes]
rs7919524	0.83[EUR][1000 genomes]
rs9332105	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9332113	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9332140	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9332167	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9332184	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv551955	chr10:96444249-96690371	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1035409	chr10:96495177-96832057	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3529538	chr10:96522848-96700018	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3529539	chr10:96522848-96700018	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3361914	chr10:96522865-96700024	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv523259	chr10:96534584-96693727	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3336672	chr10:96543010-96711519	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1037973	chr10:96563228-96711744	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1047782	chr10:96581094-96718479	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv551962	chr10:96680265-96734339	Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72818619	CYP2C19	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96681400-96695600	Weak transcription	Fetal Intestine Small	intestine

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