Variant report

Variant	rs12051063
Chromosome Location	chr16:79673405-79673406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:79672405..79675476-chr16:79684615..79687240,3	MCF-7	breast:
2	chr16:79666363..79669932-chr16:79670774..79673864,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10514464	0.84[YRI][hapmap]
rs11150180	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11150181	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12445977	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12927824	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12935153	0.81[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1364341	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34411317	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55948842	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7189933	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7193804	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs728929	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv833295	chr16:79568878-79726768	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv906992	chr16:79649394-79769790	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12051063	CFDP1	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79666400-79682200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:79668600-79674800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr16:79670000-79673600	Weak transcription	Esophagus	oesophagus
4	chr16:79670200-79673800	Weak transcription	HSMMtube	muscle
5	chr16:79672200-79673600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr16:79672400-79675000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:79672600-79673600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:79672600-79674400	Weak transcription	Ovary	ovary
9	chr16:79672800-79674600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr16:79673000-79673800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:79673000-79674400	Enhancers	Fetal Thymus	thymus
12	chr16:79673200-79674600	Enhancers	Primary hematopoietic stem cells	blood
13	chr16:79673200-79674600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr16:79673400-79673800	Enhancers	Fetal Intestine Large	intestine
15	chr16:79673400-79674000	Flanking Active TSS	NHEK	skin
16	chr16:79673400-79674200	Enhancers	Placenta	Placenta
17	chr16:79673400-79674400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr16:79673400-79674400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:79673400-79674400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:79673400-79674600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr16:79673400-79674600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:79673400-79674600	Enhancers	Brain Germinal Matrix	brain
23	chr16:79673400-79674800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr16:79673400-79675200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr16:79673400-79675400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr16:79673400-79675400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:79673400-79676400	Enhancers	Primary T cells fromperipheralblood	blood

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