Variant report

Variant	rs99521
Chromosome Location	chr15:93228633-93228634
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:93195298..93197981-chr15:93227348..93229678,2	MCF-7	breast:
2	chr15:93186791..93189169-chr15:93226083..93228824,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185442	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12917366	1.00[CHB][hapmap]
rs1467972	0.82[MEX][hapmap];0.83[TSI][hapmap]
rs16947186	1.00[CHB][hapmap]
rs184047	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs206350	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs206355	0.85[AMR][1000 genomes]
rs2132615	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs285723	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285728	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs285737	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285738	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285739	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285741	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs285743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs285744	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285753	0.91[MEX][hapmap]
rs285764	1.00[CHB][hapmap]
rs285766	1.00[CHB][hapmap]
rs285767	1.00[CHB][hapmap]
rs374653	0.82[MEX][hapmap]
rs401072	0.82[MEX][hapmap]
rs72758232	0.86[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	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
rs99521	LOC400451	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93214800-93232200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:93225000-93231800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr15:93225000-93232000	Weak transcription	Ovary	ovary
4	chr15:93226000-93234000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:93226600-93230600	Weak transcription	HSMMtube	muscle
6	chr15:93226800-93230000	Weak transcription	Stomach Mucosa	stomach
7	chr15:93226800-93230200	Weak transcription	HSMM	muscle
8	chr15:93227200-93230200	Weak transcription	Fetal Lung	lung

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