Variant report

Variant	rs194732
Chromosome Location	chr14:69306299-69306300
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69257443..69263267-chr14:69305982..69312258,9	MCF-7	breast:
2	chr14:69303424..69306319-chr14:69309127..69313169,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263694	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10139199	0.85[CEU][hapmap];0.84[GIH][hapmap]
rs1274955	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1296535	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs194713	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs194738	0.93[AFR][1000 genomes]
rs194740	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs194743	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs194745	0.82[YRI][hapmap]
rs4899260	0.85[CEU][hapmap];0.84[GIH][hapmap]
rs8019383	0.85[CEU][hapmap];0.84[GIH][hapmap]

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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	nsv902071	chr14:69288432-69328594	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv902072	chr14:69288432-69329149	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv902073	chr14:69288432-69331065	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2755940	chr14:69301705-69318262	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs194732	SMOC1	cis	cerebellum	SCAN
rs194732	KIAA0247	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69290200-69307200	Weak transcription	HMEC	breast
2	chr14:69300600-69307600	Strong transcription	HSMM	muscle
3	chr14:69301200-69307400	Strong transcription	NH-A	brain
4	chr14:69302200-69308200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:69302800-69306400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:69303200-69307400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:69303200-69307400	Weak transcription	NHEK	skin
8	chr14:69303200-69308000	Weak transcription	Osteobl	bone
9	chr14:69303200-69310000	Weak transcription	Ovary	ovary
10	chr14:69303400-69308000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:69303600-69307200	Weak transcription	NHLF	lung
12	chr14:69304000-69306400	Strong transcription	Aorta	Aorta
13	chr14:69304000-69307400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:69304400-69306400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:69304400-69307600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:69304400-69308000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:69304800-69307200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:69305200-69307400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:69305400-69306400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:69305400-69306400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
21	chr14:69305400-69310000	Weak transcription	Right Ventricle	heart
22	chr14:69305600-69306400	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr14:69305600-69307000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:69305600-69307800	Strong transcription	HSMMtube	muscle
25	chr14:69305600-69308200	Weak transcription	Fetal Stomach	stomach
26	chr14:69305800-69306600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:69305800-69310200	Weak transcription	Lung	lung
28	chr14:69305800-69310400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:69306200-69306400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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