Variant report

Variant	rs1390789
Chromosome Location	chr15:93084508-93084509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:93070587..93073432-chr15:93083520..93085076,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11853057	0.91[ASN][1000 genomes]
rs11857335	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1350095	0.83[AMR][1000 genomes]
rs1496714	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496715	1.00[ASN][1000 genomes]
rs1496716	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496719	0.90[ASN][1000 genomes]
rs16947001	0.91[ASN][1000 genomes]
rs16947034	0.83[AMR][1000 genomes]
rs1902263	0.81[AMR][1000 genomes]
rs1902264	0.83[AMR][1000 genomes]
rs2085269	1.00[ASN][1000 genomes]
rs2124360	0.91[ASN][1000 genomes]
rs2124362	0.91[ASN][1000 genomes]
rs2168356	0.83[AMR][1000 genomes]
rs2219218	0.83[AMR][1000 genomes]
rs28404677	0.83[AMR][1000 genomes]
rs28576919	0.91[ASN][1000 genomes]
rs28653744	0.83[AMR][1000 genomes]
rs28666557	0.83[AMR][1000 genomes]
rs28680286	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28685094	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28715191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28836180	0.83[AMR][1000 genomes]
rs28851502	0.83[AMR][1000 genomes]
rs55714577	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62023191	0.91[ASN][1000 genomes]
rs62023195	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6496956	0.83[AMR][1000 genomes]
rs7162155	0.91[ASN][1000 genomes]
rs7165664	0.83[AMR][1000 genomes]
rs7166289	0.91[ASN][1000 genomes]
rs7167538	0.91[ASN][1000 genomes]
rs7168428	0.91[ASN][1000 genomes]
rs7169349	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7173352	0.91[ASN][1000 genomes]
rs7173925	0.91[ASN][1000 genomes]
rs7176335	0.83[AMR][1000 genomes]
rs7181188	0.83[AMR][1000 genomes]
rs7181381	0.91[ASN][1000 genomes]
rs7181967	0.83[AMR][1000 genomes]
rs7183230	0.91[ASN][1000 genomes]
rs7183607	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7183912	0.91[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	nsv948621	chr15:92688981-93158095	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1049561	chr15:92758434-93097965	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
5	esv2751542	chr15:93053681-93091815	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1390789	SLCO3A1	cis	parietal	SCAN
rs1390789	UNC45A	cis	parietal	SCAN
rs1390789	POLG	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93084200-93084800	Enhancers	HSMM	muscle
2	chr15:93084200-93085600	Enhancers	Fetal Lung	lung
3	chr15:93084200-93085800	Enhancers	HSMMtube	muscle
4	chr15:93084200-93086000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr15:93084400-93085200	Enhancers	Fetal Brain Male	brain
6	chr15:93084400-93085400	Enhancers	Fetal Muscle Leg	muscle
7	chr15:93084400-93085600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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