Variant report

Variant	rs17099264
Chromosome Location	chr12:63696531-63696532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1250678	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1266060	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520722	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17099254	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs521792	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs545802	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61934689	1.00[ASN][1000 genomes]
rs61934690	1.00[ASN][1000 genomes]
rs61934691	1.00[ASN][1000 genomes]
rs61934692	1.00[ASN][1000 genomes]
rs61934693	1.00[ASN][1000 genomes]
rs61934696	0.85[ASN][1000 genomes]
rs61934697	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73318047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786852	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786856	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs786859	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7969845	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs813093	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1035736	chr12:63526274-63920372	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541510	chr12:63526274-63920372	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1052866	chr12:63562442-63879794	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541511	chr12:63562442-63879794	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv832438	chr12:63571652-63745827	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv832439	chr12:63688083-63865226	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17099264	CYP27B1	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63695000-63696800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:63695000-63696800	Enhancers	HMEC	breast
3	chr12:63695200-63697200	Enhancers	NH-A	brain
4	chr12:63695400-63696800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:63695600-63696800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:63695600-63697800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:63695800-63696600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:63695800-63696600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:63695800-63696600	Enhancers	NHDF-Ad	bronchial
10	chr12:63695800-63697200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:63695800-63697200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:63696000-63696600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:63696000-63696600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:63696000-63696600	Enhancers	Aorta	Aorta
15	chr12:63696000-63696600	Enhancers	Fetal Thymus	thymus
16	chr12:63696000-63696800	Bivalent Enhancer	HUVEC	blood vessel
17	chr12:63696000-63697200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:63696000-63697400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:63696000-63697600	Flanking Active TSS	Dnd41	blood
20	chr12:63696200-63696600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:63696200-63696800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:63696200-63697600	Enhancers	Fetal Kidney	kidney

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