Variant report

Variant	rs12946063
Chromosome Location	chr17:17512768-17512769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17493607..17496428-chr17:17511581..17515248,4	MCF-7	breast:
2	chr17:17512228..17514330-chr17:17515822..17518656,2	K562	blood:

Variant related genes	Relation type
ENSG00000133027	Chromatin interaction
ENSG00000264666	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11650499	0.91[ASN][1000 genomes]
rs11869600	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11871738	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12452584	0.85[ASN][1000 genomes]
rs12937108	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12937187	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12939297	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12939598	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12941217	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12942708	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12946845	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12949039	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12949336	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12950093	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12951181	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12952281	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12952629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34664666	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35372447	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35660942	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35851484	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62066210	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9911672	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr17:17508600-17515200	Weak transcription	Lung	lung
2	chr17:17509400-17515400	Weak transcription	HSMMtube	muscle
3	chr17:17509400-17517800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr17:17509800-17515400	Weak transcription	Left Ventricle	heart
5	chr17:17510200-17515200	Weak transcription	Fetal Heart	heart
6	chr17:17510200-17515400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:17510200-17515400	Weak transcription	Right Atrium	heart
8	chr17:17510400-17515400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:17510600-17512800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:17510800-17516800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr17:17512400-17512800	Active TSS	HepG2	liver
12	chr17:17512400-17513000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr17:17512400-17513000	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr17:17512400-17513000	ZNF genes & repeats	Fetal Stomach	stomach
15	chr17:17512600-17512800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:17512600-17512800	Enhancers	Right Ventricle	heart
17	chr17:17512600-17512800	Flanking Active TSS	Spleen	Spleen
18	chr17:17512600-17512800	Enhancers	K562	blood
19	chr17:17512600-17513000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:17512600-17513200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr17:17512600-17515200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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