Variant report

Variant	rs4242100
Chromosome Location	chr5:42318011-42318012
allele	C/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:55)

rs_ID	r²[population]
rs10059251	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059910	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10434602	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11745455	0.96[CEU][hapmap]
rs13153060	1.00[ASN][1000 genomes]
rs13156541	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13171720	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13180731	1.00[ASN][1000 genomes]
rs13184352	1.00[CHB][hapmap]
rs13187542	1.00[ASN][1000 genomes]
rs13188386	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1393016	0.83[EUR][1000 genomes]
rs1393019	0.85[EUR][1000 genomes]
rs1501512	0.81[EUR][1000 genomes]
rs17574527	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17574616	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17575164	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17636762	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28943878	1.00[ASN][1000 genomes]
rs34126503	1.00[ASN][1000 genomes]
rs34161441	1.00[ASN][1000 genomes]
rs34305870	1.00[ASN][1000 genomes]
rs34714947	1.00[ASN][1000 genomes]
rs35331831	1.00[ASN][1000 genomes]
rs35418208	1.00[ASN][1000 genomes]
rs35585211	1.00[ASN][1000 genomes]
rs4077983	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4242101	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4320267	1.00[ASN][1000 genomes]
rs4457090	1.00[ASN][1000 genomes]
rs4866735	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4866836	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56781446	1.00[ASN][1000 genomes]
rs61043035	1.00[ASN][1000 genomes]
rs632189	0.83[EUR][1000 genomes]
rs6451597	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6451598	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6451599	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6451606	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6451618	1.00[ASN][1000 genomes]
rs67314897	1.00[ASN][1000 genomes]
rs67846180	1.00[ASN][1000 genomes]
rs6872878	1.00[ASN][1000 genomes]
rs6885716	1.00[ASN][1000 genomes]
rs6891036	1.00[ASN][1000 genomes]
rs72753062	1.00[ASN][1000 genomes]
rs72753064	1.00[ASN][1000 genomes]
rs7703669	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7715374	1.00[ASN][1000 genomes]
rs7716495	1.00[ASN][1000 genomes]
rs7718962	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7732059	1.00[ASN][1000 genomes]
rs9292848	1.00[ASN][1000 genomes]
rs9292850	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9292851	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv880518	chr5:42231896-42375243	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv881375	chr5:42254097-42442715	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42317400-42319000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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