Variant report

Variant	rs62242846
Chromosome Location	chr3:46095661-46095662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46095387..46098200-chr3:46100479..46102760,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10510747	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1118021	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12054287	0.90[EUR][1000 genomes]
rs12486449	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13434141	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1491960	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1546079	0.80[ASN][1000 genomes]
rs1602580	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1604068	0.99[ASN][1000 genomes]
rs17078567	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17078589	0.89[ASN][1000 genomes]
rs2036295	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2133662	0.83[EUR][1000 genomes]
rs2173639	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2888512	0.87[ASN][1000 genomes]
rs4339141	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4447807	0.90[EUR][1000 genomes]
rs4490402	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4586860	0.87[ASN][1000 genomes]
rs4682804	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4682805	0.88[ASN][1000 genomes]
rs4682807	0.88[ASN][1000 genomes]
rs4683169	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4683174	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56800498	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58035200	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58260031	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59865404	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60539039	0.91[EUR][1000 genomes]
rs60991632	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61066315	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61254379	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61387489	0.86[ASN][1000 genomes]
rs62242832	0.90[EUR][1000 genomes]
rs62243869	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62243873	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62243875	0.84[EUR][1000 genomes]
rs62243876	0.84[EUR][1000 genomes]
rs62243906	0.80[EUR][1000 genomes]
rs6763341	0.83[EUR][1000 genomes]
rs6778958	0.87[ASN][1000 genomes]
rs6807854	0.82[EUR][1000 genomes]
rs751625	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7623476	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7629999	0.80[EUR][1000 genomes]
rs7641151	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7641164	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7643426	0.83[EUR][1000 genomes]
rs880160	0.87[ASN][1000 genomes]
rs9818635	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9849715	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9856805	0.88[ASN][1000 genomes]
rs9990060	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46087600-46095800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:46094200-46096200	Enhancers	Placenta	Placenta
3	chr3:46095200-46096000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr3:46095200-46096400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:46095400-46096600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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