Variant report

Variant	rs1534048
Chromosome Location	chr1:58012616-58012617
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10493229	1.00[EUR][1000 genomes]
rs10889057	1.00[EUR][1000 genomes]
rs11207053	1.00[EUR][1000 genomes]
rs11803909	1.00[EUR][1000 genomes]
rs11805586	1.00[EUR][1000 genomes]
rs11810273	1.00[EUR][1000 genomes]
rs12067444	1.00[EUR][1000 genomes]
rs12067490	1.00[EUR][1000 genomes]
rs1341311	1.00[EUR][1000 genomes]
rs1341321	0.83[YRI][hapmap]
rs1404388	0.83[YRI][hapmap]
rs1524706	1.00[EUR][1000 genomes]
rs1524712	1.00[EUR][1000 genomes]
rs1524717	0.90[AMR][1000 genomes]
rs1524718	0.90[AMR][1000 genomes]
rs1524731	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1815685	1.00[EUR][1000 genomes]
rs1880441	0.91[AFR][1000 genomes]
rs1880442	1.00[EUR][1000 genomes]
rs1917338	1.00[AMR][1000 genomes]
rs1935045	1.00[EUR][1000 genomes]
rs2204376	1.00[EUR][1000 genomes]
rs2265623	1.00[EUR][1000 genomes]
rs2691443	1.00[EUR][1000 genomes]
rs2691444	1.00[EUR][1000 genomes]
rs2691445	1.00[EUR][1000 genomes]
rs2691447	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691448	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691454	0.84[YRI][hapmap]
rs2691455	1.00[EUR][1000 genomes]
rs2793641	1.00[EUR][1000 genomes]
rs2805850	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2805851	1.00[EUR][1000 genomes]
rs2805860	0.86[YRI][hapmap]
rs28391765	1.00[EUR][1000 genomes]
rs28621926	1.00[EUR][1000 genomes]
rs3958553	0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs4310463	1.00[EUR][1000 genomes]
rs4348747	1.00[EUR][1000 genomes]
rs4526638	1.00[EUR][1000 genomes]
rs4529731	1.00[EUR][1000 genomes]
rs4553222	1.00[EUR][1000 genomes]
rs4554738	1.00[EUR][1000 genomes]
rs56873272	1.00[EUR][1000 genomes]
rs58873103	1.00[EUR][1000 genomes]
rs60116819	1.00[EUR][1000 genomes]
rs60867983	1.00[EUR][1000 genomes]
rs72908597	1.00[EUR][1000 genomes]
rs7551052	1.00[EUR][1000 genomes]
rs947237	1.00[EUR][1000 genomes]
rs947238	1.00[EUR][1000 genomes]
rs947241	1.00[EUR][1000 genomes]
rs947242	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1012555	chr1:57950355-58103389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv870802	chr1:57965114-58037031	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	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
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58012200-58013000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:58012600-58014200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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