Variant report

Variant	rs10454749
Chromosome Location	chr2:55735748-55735749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55734348..55736732-chr2:55747645..55749289,2	K562	blood:
2	chr2:55733547..55736199-chr2:55744050..55746817,2	MCF-7	breast:
3	chr2:55735103..55738045-chr2:55741187..55743259,2	K562	blood:

Variant related genes	Relation type
ENSG00000163001	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10165864	0.83[EUR][1000 genomes]
rs10181648	0.84[EUR][1000 genomes]
rs10496050	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1058582	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1084522	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11125579	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11125581	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17278044	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17369191	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17798852	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1823893	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1975484	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1975487	0.82[AMR][1000 genomes]
rs2586947	0.80[AMR][1000 genomes]
rs2627759	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35504023	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3762513	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4290693	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4672052	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4672054	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4672055	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4672056	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55761024	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58003472	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62165168	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62165173	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62165181	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62165182	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62165183	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62165184	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62165196	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62165197	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6545506	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6739513	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7582278	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7594279	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7598650	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs782586	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs782587	0.81[AMR][1000 genomes]
rs782588	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs782590	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs782594	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs782595	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs782599	0.80[AMR][1000 genomes]
rs782600	0.80[AMR][1000 genomes]
rs782601	0.80[AMR][1000 genomes]
rs782602	0.80[AMR][1000 genomes]
rs782649	0.81[AMR][1000 genomes]
rs782650	0.83[AMR][1000 genomes]
rs9917139	0.83[EUR][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	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv521318	chr2:55716650-55736704	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10454749	PNPT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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