Variant report

Variant	rs285750
Chromosome Location	chr15:93217011-93217012
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	chr15:93208998..93212219-chr15:93213312..93218105,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185442	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16947147	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs16947163	0.83[ASN][1000 genomes]
rs206355	0.94[EUR][1000 genomes]
rs285720	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs285722	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs285723	0.80[EUR][1000 genomes]
rs285728	0.83[EUR][1000 genomes]
rs285748	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs285751	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs285752	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs285753	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412858	0.86[EUR][1000 genomes]
rs57086675	0.83[ASN][1000 genomes]
rs58676532	0.83[ASN][1000 genomes]
rs58969800	0.83[ASN][1000 genomes]
rs61315665	0.83[ASN][1000 genomes]
rs7171211	0.83[ASN][1000 genomes]
rs7174458	0.83[ASN][1000 genomes]
rs7176540	0.83[ASN][1000 genomes]
rs73460450	0.83[ASN][1000 genomes]
rs73460492	0.83[ASN][1000 genomes]
rs73460496	0.83[ASN][1000 genomes]
rs8037598	0.83[ASN][1000 genomes]
rs8038942	0.83[ASN][1000 genomes]
rs8041176	0.83[ASN][1000 genomes]
rs89062	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9744183	0.83[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	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
2	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
3	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
4	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
5	nsv1040501	chr15:93177153-93286393	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1036897	chr15:93211991-93239388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs285750	LOC400451	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93211200-93218000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:93211600-93221400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr15:93211800-93218400	Weak transcription	Right Atrium	heart
4	chr15:93211800-93224400	Weak transcription	Fetal Muscle Leg	muscle
5	chr15:93213800-93217200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:93214400-93217200	Enhancers	Fetal Lung	lung
7	chr15:93214800-93232200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:93215200-93220000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr15:93215600-93217400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:93216600-93217200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr15:93216800-93224200	Weak transcription	Fetal Stomach	stomach
12	chr15:93217000-93221600	Weak transcription	H1 Cell Line	embryonic stem cell

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