Variant report

Variant	rs1037508
Chromosome Location	chr2:55732476-55732477
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55731157..55733900-chr2:55736800..55738554,2	MCF-7	breast:
2	chr2:55719796..55722184-chr2:55731465..55733382,2	MCF-7	breast:
3	chr2:55726280..55728850-chr2:55731449..55734016,2	K562	blood:
4	chr2:55463589..55465767-chr2:55732207..55734884,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239189	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1045910	0.86[ASN][1000 genomes]
rs12463766	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12619756	0.85[ASN][1000 genomes]
rs12989898	0.90[ASN][1000 genomes]
rs13016772	0.94[ASN][1000 genomes]
rs13028892	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1563201	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2168097	0.88[ASN][1000 genomes]
rs2586946	0.82[ASN][1000 genomes]
rs2586948	0.82[ASN][1000 genomes]
rs2586965	0.83[ASN][1000 genomes]
rs2627758	0.83[ASN][1000 genomes]
rs2627763	0.83[ASN][1000 genomes]
rs2627783	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3748945	0.95[ASN][1000 genomes]
rs3816489	0.93[ASN][1000 genomes]
rs4233962	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671248	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61475257	0.83[ASN][1000 genomes]
rs62165178	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6545505	0.85[ASN][1000 genomes]
rs6717574	0.80[AFR][1000 genomes]
rs6731927	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs730884	0.90[ASN][1000 genomes]
rs744514	0.90[ASN][1000 genomes]
rs7571482	0.81[ASN][1000 genomes]
rs7574398	0.81[AMR][1000 genomes]
rs7585484	0.88[ASN][1000 genomes]
rs7605486	0.84[ASN][1000 genomes]
rs7605504	0.83[ASN][1000 genomes]
rs782589	0.81[ASN][1000 genomes]
rs782591	0.82[ASN][1000 genomes]
rs782593	0.82[ASN][1000 genomes]
rs782598	0.82[ASN][1000 genomes]
rs782603	0.81[ASN][1000 genomes]
rs782612	0.83[ASN][1000 genomes]
rs9636439	0.90[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	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
rs1037508	PNPT1	Cis_1M	lymphoblastoid	RTeQTL

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

No data

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