Variant report

Variant	rs2570123
Chromosome Location	chr15:87576178-87576179
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:87575965..87576999-chr15:88502091..88503093,5	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1010419	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11073689	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1368624	0.94[ASN][1000 genomes]
rs1433453	0.94[ASN][1000 genomes]
rs1836083	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1897661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2043380	0.93[ASN][1000 genomes]
rs2570128	0.93[ASN][1000 genomes]
rs2570130	0.90[ASN][1000 genomes]
rs2594328	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2594329	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2594330	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2701394	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2701397	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2701405	0.90[ASN][1000 genomes]
rs2701406	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2701407	0.86[ASN][1000 genomes]
rs2701408	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2701415	0.91[ASN][1000 genomes]
rs4533254	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5027895	0.80[ASN][1000 genomes]
rs7177132	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7182264	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9921009	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv1039254	chr15:87070357-87942988	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv533986	chr15:87100872-87633926	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1039005	chr15:87228489-87813438	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv542465	chr15:87228489-87813438	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1044157	chr15:87458558-88101699	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1048366	chr15:87557904-87586707	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2570123	UBE2Q2P1	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:87574400-87576600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:87575000-87577000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:87575200-87576200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:87575600-87576400	Enhancers	NHEK	skin
5	chr15:87575600-87577400	Enhancers	HMEC	breast
6	chr15:87575800-87576400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:87575800-87577400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:87575800-87579000	Weak transcription	Brain Substantia Nigra	brain
9	chr15:87576000-87579000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:87576000-87581200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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