Variant report

Variant	rs1160312
Chromosome Location	chr20:22050503-22050504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs127747	0.86[EUR][1000 genomes]
rs1887056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs201150	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs201559	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs201567	0.86[EUR][1000 genomes]
rs201585	0.81[ASN][1000 genomes]
rs201586	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs201587	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs201588	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs201589	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs201590	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs201592	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs201593	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs201594	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2876631	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4813446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6036026	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6036027	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6036029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6047844	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6082642	0.83[CHB][hapmap]
rs6113495	0.86[ASN][1000 genomes]
rs6113496	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6132477	0.86[ASN][1000 genomes]
rs6137527	0.86[ASN][1000 genomes]
rs742655	0.83[CHB][hapmap]
rs804612	0.83[CHB][hapmap]
rs804614	0.83[CHB][hapmap]
rs913063	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv432114	chr20:22012900-22148200	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1064957	chr20:22042418-22148798	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1057093	chr20:22042418-22154100	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1056616	chr20:22042418-22154935	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1058614	chr20:22045005-22148798	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1058372	chr20:22045005-22154100	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1062838	chr20:22048054-22128103	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv544211	chr20:22048054-22128103	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Male-pattern baldness	18849991	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1160312	PLK1S1	cis	cerebellum	SCAN
rs1160312	OVOL2	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22047200-22051200	Weak transcription	Colon Smooth Muscle	Colon
2	chr20:22050400-22052000	Enhancers	Fetal Muscle Leg	muscle

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