Variant report

Variant	rs7548316
Chromosome Location	chr1:58525225-58525226
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10443219	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10443242	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10443244	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10443245	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10443246	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10443247	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889081	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10889082	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207162	0.97[EUR][1000 genomes]
rs11207163	0.80[AFR][1000 genomes]
rs12124142	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12563473	0.99[ASN][1000 genomes]
rs1408925	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17116775	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17116802	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025616	1.00[ASN][1000 genomes]
rs2806403	0.86[ASN][1000 genomes]
rs2808814	0.93[ASN][1000 genomes]
rs2808822	1.00[ASN][1000 genomes]
rs34678610	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3753508	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3753509	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57920068	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58537714	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587800	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6657553	0.97[EUR][1000 genomes]
rs6657936	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677854	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7515158	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7516066	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7527900	0.93[EUR][1000 genomes]
rs7527995	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv530017	chr1:58002290-58669736	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv431379	chr1:58224212-58802608	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58518800-58525600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:58520000-58525400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:58524400-58525800	Weak transcription	Fetal Brain Female	brain
4	chr1:58524600-58526800	Enhancers	Fetal Brain Male	brain
5	chr1:58524800-58525600	Enhancers	Right Ventricle	heart
6	chr1:58525200-58526600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:58525200-58526800	Enhancers	Cortex derived primary cultured neurospheres	brain

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