Variant report

Variant	rs7570354
Chromosome Location	chr2:48383746-48383747
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48372617..48375586-chr2:48381914..48383881,2	K562	blood:
2	chr2:48373325..48375853-chr2:48381099..48383887,3	K562	blood:
3	chr2:48379193..48381020-chr2:48383566..48385739,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11125165	1.00[ASN][1000 genomes]
rs11125166	0.85[ASN][1000 genomes]
rs1601063	0.88[EUR][1000 genomes]
rs2128719	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2136456	0.93[ASN][1000 genomes]
rs2348717	0.89[ASN][1000 genomes]
rs2348718	0.93[ASN][1000 genomes]
rs2882003	1.00[ASN][1000 genomes]
rs4146603	1.00[ASN][1000 genomes]
rs4952905	0.93[ASN][1000 genomes]
rs4953548	0.89[ASN][1000 genomes]
rs4953549	0.89[ASN][1000 genomes]
rs4953552	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953553	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953555	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4953556	1.00[ASN][1000 genomes]
rs4953557	1.00[ASN][1000 genomes]
rs58178746	1.00[ASN][1000 genomes]
rs58525908	1.00[ASN][1000 genomes]
rs6545021	0.89[ASN][1000 genomes]
rs6545023	1.00[ASN][1000 genomes]
rs6712238	0.89[ASN][1000 genomes]
rs6718037	0.89[ASN][1000 genomes]
rs6722407	0.89[ASN][1000 genomes]
rs6723952	0.89[ASN][1000 genomes]
rs7589460	0.89[ASN][1000 genomes]
rs7605361	0.89[ASN][1000 genomes]
rs7609124	0.89[ASN][1000 genomes]
rs922902	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs922903	0.89[ASN][1000 genomes]
rs9677729	1.00[ASN][1000 genomes]
rs973894	1.00[ASN][1000 genomes]
rs990063	1.00[ASN][1000 genomes]
rs990549	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr2:48383000-48383800	ZNF genes & repeats	Spleen	Spleen

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