Variant report

Variant	rs17596572
Chromosome Location	chr1:152213112-152213113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 28 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10749669	0.91[JPT][hapmap]
rs10749670	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs10788824	0.86[JPT][hapmap]
rs10888470	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs10888471	0.83[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap]
rs10888473	0.83[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs11204944	0.81[ASN][1000 genomes]
rs11204947	0.83[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs11204948	0.83[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs11204952	0.80[ASN][1000 genomes]
rs11204980	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs11204981	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs11583524	0.84[JPT][hapmap]
rs11584340	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs11588174	0.91[JPT][hapmap]
rs12032307	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12047495	0.82[AMR][1000 genomes]
rs1390488	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs1390490	0.86[JPT][hapmap]
rs1466757	0.81[ASN][1000 genomes]
rs1496045	0.91[JPT][hapmap]
rs1845791	0.82[ASN][1000 genomes]
rs1858480	0.83[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap]
rs1969019	0.82[ASN][1000 genomes]
rs2132418	0.83[ASN][1000 genomes]
rs2184953	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs2338430	0.82[ASN][1000 genomes]
rs3120659	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs3126066	0.83[CHB][hapmap]
rs3126091	0.82[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap]
rs36033453	0.81[ASN][1000 genomes]
rs4511113	0.81[ASN][1000 genomes]
rs4845423	0.91[JPT][hapmap]
rs4845425	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4845428	0.81[ASN][1000 genomes]
rs4845736	0.91[JPT][hapmap]
rs4845737	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs4845743	0.89[AMR][1000 genomes]
rs4845745	0.91[JPT][hapmap]
rs4845750	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs4845752	0.80[ASN][1000 genomes]
rs6587666	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs6666097	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6666382	0.83[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs6670891	0.83[ASN][1000 genomes]
rs6675889	0.82[ASN][1000 genomes]
rs6678951	0.81[ASN][1000 genomes]
rs7537637	0.81[ASN][1000 genomes]
rs7545406	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7550106	0.83[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap]
rs877776	0.91[JPT][hapmap]
rs991231	0.82[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	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	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
3	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
4	nsv947506	chr1:152203216-152223222	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:28)

SNP	Gene	Cis/trans	Tissue	Source
rs17596572	FLG-AS1	cis	lung	GTEx
rs17596572	FLG-AS1	cis	Artery Tibial	GTEx
rs17596572	HRNR	cis	Esophagus Mucosa	GTEx
rs17596572	FLG-AS1	cis	Thyroid	GTEx
rs17596572	HRNR	cis	Esophagus Muscularis	GTEx
rs17596572	HRNR	cis	lung	GTEx
rs17596572	FLG-AS1	cis	Esophagus Muscularis	GTEx
rs17596572	RORC	cis	parietal	SCAN
rs17596572	HRNR	cis	Thyroid	GTEx
rs17596572	FLG	cis	Artery Tibial	GTEx
rs17596572	FLG-AS1	cis	Muscle Skeletal	GTEx
rs17596572	HRNR	cis	Artery Tibial	GTEx
rs17596572	FLG-AS1	cis	Stomach	GTEx
rs17596572	FLG-AS1	cis	Adipose Subcutaneous	GTEx
rs17596572	VPS45	cis	parietal	SCAN
rs17596572	HRNR	cis	Nerve Tibial	GTEx
rs17596572	HRNR	cis	Adipose Subcutaneous	GTEx
rs17596572	LOC339400	cis	normal skin	skin_eQTL
rs17596572	FLG-AS1	cis	Artery Aorta	GTEx
rs17596572	FLG-AS1	cis	Heart Left Ventricle	GTEx
rs17596572	FLG	cis	Esophagus Muscularis	GTEx
rs17596572	FLG	cis	lung	GTEx
rs17596572	HRNR	cis	Stomach	GTEx
rs17596572	FLG	cis	Nerve Tibial	GTEx
rs17596572	FLG	cis	Thyroid	GTEx
rs17596572	HRNR	cis	Artery Aorta	GTEx
rs17596572	FLG-AS1	cis	Nerve Tibial	GTEx
rs17596572	FLG	cis	Artery Aorta	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152207600-152215400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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