Variant report

Variant	rs9547240
Chromosome Location	chr13:86075190-86075191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12867781	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12875101	0.84[EUR][1000 genomes]
rs12875317	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1610384	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34298128	1.00[ASN][1000 genomes]
rs34971145	1.00[ASN][1000 genomes]
rs35417943	1.00[ASN][1000 genomes]
rs596482	1.00[ASN][1000 genomes]
rs599428	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659907	1.00[ASN][1000 genomes]
rs7338483	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9531803	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547245	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547249	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645974	1.00[ASN][1000 genomes]
rs9645975	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916866	chr13:85505771-86241562	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1050105	chr13:85524968-86218429	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv541857	chr13:85524968-86218429	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1050937	chr13:85771174-86093359	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv541858	chr13:85771174-86093359	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1037401	chr13:85801684-86126708	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2752724	chr13:85810499-86320999	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1037563	chr13:85830511-86414012	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1049236	chr13:85875658-86126708	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv2753996	chr13:85888097-86136370	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv2754435	chr13:85947547-86136370	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv2753967	chr13:85956153-86093716	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1053499	chr13:85959321-86197157	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv541859	chr13:85959321-86197157	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv428611	chr13:85975283-86138633	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv471162	chr13:85994700-86296819	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv456051	chr13:85994700-86306452	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv562609	chr13:85994700-86306452	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86069200-86077200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:86071800-86083400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:86072600-86077200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:86072800-86077000	Weak transcription	Hela-S3	cervix
5	chr13:86073400-86077600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:86074400-86075600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:86074400-86075600	Enhancers	HMEC	breast
8	chr13:86074400-86075800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr13:86074400-86076200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:86074800-86075200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr13:86074800-86075800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr13:86074800-86075800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr13:86074800-86075800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr13:86074800-86075800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:86074800-86075800	Enhancers	NHEK	skin
16	chr13:86075000-86075200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr13:86075000-86075400	Enhancers	Fetal Stomach	stomach
18	chr13:86075000-86076000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr13:86075000-86076000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr13:86075000-86076200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr13:86075000-86076200	Enhancers	HUES6 Cell Line	embryonic stem cell

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