Variant report

Variant	rs8041672
Chromosome Location	chr15:58551989-58551990
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:58550245-58553629	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr15:58550148-58552138	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr15:58551801-58553564	MCF10A-Er-Src	breast:	n/a	chr15:58552678-58552686 chr15:58552621-58552632 chr15:58552623-58552632 chr15:58553376-58553384 chr15:58551844-58551852 chr15:58552683-58552694 chr15:58552656-58552667 chr15:58552622-58552631

Variant related genes	Relation type
ALDH1A2	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11635981	0.87[EUR][1000 genomes]
rs11855606	0.89[EUR][1000 genomes]
rs28375945	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55657970	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55797728	0.88[EUR][1000 genomes]
rs55800519	0.88[EUR][1000 genomes]
rs56004654	0.88[EUR][1000 genomes]
rs56080153	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56192863	0.95[EUR][1000 genomes]
rs56403475	0.86[EUR][1000 genomes]
rs7163446	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7163729	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72739109	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72739128	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72739129	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72739142	0.95[EUR][1000 genomes]
rs72739145	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833024	chr15:58447459-58621963	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1050473	chr15:58479888-58562270	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv904264	chr15:58505122-58588510	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv904265	chr15:58517528-58588510	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers 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	50 gene(s)	inside rSNPs	diseases
8	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58541000-58552800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:58547000-58552800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:58547800-58557000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:58548200-58552600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:58549600-58552400	Enhancers	Hela-S3	cervix
6	chr15:58549600-58558600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:58549800-58552200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr15:58550000-58552400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr15:58550200-58554000	Enhancers	HMEC	breast
10	chr15:58550400-58552800	Weak transcription	Left Ventricle	heart
11	chr15:58550400-58561800	Weak transcription	Liver	Liver
12	chr15:58551000-58552200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:58551000-58553400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr15:58551000-58553400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr15:58551000-58553600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr15:58551200-58552000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr15:58551200-58552200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:58551200-58552400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr15:58551200-58552400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:58551200-58552600	Enhancers	NHEK	skin
21	chr15:58551200-58553600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr15:58551400-58552400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:58551400-58552400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:58551600-58552000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr15:58551600-58554000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:58551800-58552000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr15:58551800-58552200	Enhancers	Psoas Muscle	Psoas
28	chr15:58551800-58553200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:58551800-58553200	Enhancers	K562	blood
30	chr15:58551800-58553400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr15:58551800-58554400	Enhancers	Placenta	Placenta

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