Variant report

Variant	rs74127901
Chromosome Location	chr1:152195579-152195580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10749669	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10749670	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10788824	0.81[EUR][1000 genomes]
rs10788828	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10788831	0.83[ASN][1000 genomes]
rs10888466	0.86[EUR][1000 genomes]
rs10888467	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10888468	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10888470	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10888471	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10888473	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10888475	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10888476	0.86[ASN][1000 genomes]
rs10888477	0.82[ASN][1000 genomes]
rs10888478	0.83[ASN][1000 genomes]
rs11204933	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11204937	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11204938	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11204939	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11204944	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11204947	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11204948	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11204949	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11204951	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11204952	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11583524	0.81[EUR][1000 genomes]
rs11588174	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11589532	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11589587	0.90[AMR][1000 genomes]
rs12047544	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12063165	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12117911	0.86[EUR][1000 genomes]
rs12144058	0.84[ASN][1000 genomes]
rs12405678	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12408581	0.87[AMR][1000 genomes]
rs12409762	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12409802	0.84[ASN][1000 genomes]
rs12567463	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12748016	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12749966	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12754479	0.81[AMR][1000 genomes]
rs1353436	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1390485	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1390487	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1390488	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1466757	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1496049	0.82[EUR][1000 genomes]
rs1496050	0.86[EUR][1000 genomes]
rs1496051	0.86[EUR][1000 genomes]
rs1552992	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1552993	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1552995	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1552996	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1845791	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1969019	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2132418	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2291770	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2338430	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2338431	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2338432	0.82[ASN][1000 genomes]
rs2879174	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36033453	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41266134	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4256811	0.83[ASN][1000 genomes]
rs4326625	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4341364	0.83[ASN][1000 genomes]
rs4361987	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4415568	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4421596	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4456097	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4456098	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4466659	0.82[ASN][1000 genomes]
rs4511111	0.88[AMR][1000 genomes]
rs4511113	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4845421	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4845426	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4845428	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4845430	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4845431	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4845733	0.86[EUR][1000 genomes]
rs4845734	0.88[EUR][1000 genomes]
rs4845736	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4845740	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4845741	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4845742	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4845744	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4845745	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4845750	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4845751	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4845752	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4845753	0.82[ASN][1000 genomes]
rs55957623	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs55982921	0.82[AMR][1000 genomes]
rs56013982	0.87[AMR][1000 genomes]
rs6587647	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6587651	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6587652	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6662450	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6666382	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6670891	0.84[ASN][1000 genomes]
rs6675889	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6676012	0.80[EUR][1000 genomes]
rs6678951	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6692010	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72696952	0.82[AMR][1000 genomes]
rs72696963	0.90[AMR][1000 genomes]
rs72696969	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7520249	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7531094	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7533529	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7534716	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7535078	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7535536	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7536879	0.81[ASN][1000 genomes]
rs7537637	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7540844	0.86[ASN][1000 genomes]
rs7543541	0.86[ASN][1000 genomes]
rs7550106	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs868303	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs868304	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs877776	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs991231	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv471347	chr1:152184558-152196669	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region CpG island lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv19713	chr1:152185869-152196724	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv1800231	chr1:152185890-152196175	ZNF genes & repeats Active TSS Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs74127901	FLG-AS1	cis	Thyroid	GTEx
rs74127901	FLG	cis	Thyroid	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152191600-152197200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:152192600-152197800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:152194600-152198400	Weak transcription	Left Ventricle	heart

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