Variant report

Variant	rs12032307
Chromosome Location	chr1:152209612-152209613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 24 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10749669	0.90[JPT][hapmap]
rs10749670	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs10788824	0.87[JPT][hapmap]
rs10888470	0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10888471	0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10888473	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs11204939	0.81[ASN][1000 genomes]
rs11204944	0.82[ASN][1000 genomes]
rs11204947	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs11204948	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs11204980	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs11204981	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs11583524	0.85[JPT][hapmap]
rs11584340	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs11588174	0.90[JPT][hapmap]
rs12047495	0.83[AMR][1000 genomes]
rs1390488	0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs1390490	0.86[JPT][hapmap]
rs1496045	0.90[JPT][hapmap]
rs17596572	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1845791	0.81[ASN][1000 genomes]
rs1858480	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs1969019	0.81[ASN][1000 genomes]
rs2132418	0.81[ASN][1000 genomes]
rs2184953	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs2338430	0.81[ASN][1000 genomes]
rs3120659	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs3126066	0.87[CHB][hapmap]
rs3126091	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs4845423	0.90[JPT][hapmap]
rs4845425	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4845736	0.90[JPT][hapmap]
rs4845737	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs4845743	0.90[AMR][1000 genomes]
rs4845745	0.90[JPT][hapmap]
rs4845750	0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs4845751	0.81[ASN][1000 genomes]
rs6587666	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs6666097	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6666382	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs6670891	0.81[ASN][1000 genomes]
rs6675889	0.81[ASN][1000 genomes]
rs7534716	0.81[ASN][1000 genomes]
rs7545406	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7550106	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs877776	0.90[JPT][hapmap]
rs991231	0.81[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:24)

SNP	Gene	Cis/trans	Tissue	Source
rs12032307	HRNR	cis	Artery Tibial	GTEx
rs12032307	FLG	cis	Artery Aorta	GTEx
rs12032307	HRNR	cis	Esophagus Mucosa	GTEx
rs12032307	FLG-AS1	cis	Muscle Skeletal	GTEx
rs12032307	HRNR	cis	Adipose Subcutaneous	GTEx
rs12032307	FLG-AS1	cis	Nerve Tibial	GTEx
rs12032307	LOC339400	cis	normal skin	skin_eQTL
rs12032307	FLG-AS1	cis	Thyroid	GTEx
rs12032307	HRNR	cis	Esophagus Muscularis	GTEx
rs12032307	FLG-AS1	cis	Artery Tibial	GTEx
rs12032307	FLG-AS1	cis	lung	GTEx
rs12032307	FLG-AS1	cis	Esophagus Muscularis	GTEx
rs12032307	HRNR	cis	lung	GTEx
rs12032307	FLG	cis	Thyroid	GTEx
rs12032307	HRNR	cis	Nerve Tibial	GTEx
rs12032307	FLG-AS1	cis	Adipose Subcutaneous	GTEx
rs12032307	FLG	cis	Esophagus Muscularis	GTEx
rs12032307	FLG-AS1	cis	Stomach	GTEx
rs12032307	HRNR	cis	Artery Aorta	GTEx
rs12032307	FLG-AS1	cis	Heart Left Ventricle	GTEx
rs12032307	FLG	cis	Artery Tibial	GTEx
rs12032307	HRNR	cis	Thyroid	GTEx
rs12032307	FLG-AS1	cis	Artery Aorta	GTEx
rs12032307	FLG	cis	Nerve Tibial	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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