Variant report

Variant	rs8008125
Chromosome Location	chr14:70487291-70487292
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	chr14:70487128..70490716-chr14:70493782..70497437,5	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs227405	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8010305	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8019103	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8008125	SMOC1	cis	Artery Tibial	GTEx

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70476000-70500000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:70476200-70490600	Weak transcription	Fetal Brain Male	brain
3	chr14:70476200-70499000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:70481600-70488200	Weak transcription	Brain Germinal Matrix	brain
5	chr14:70482200-70488200	Weak transcription	HepG2	liver
6	chr14:70483600-70488800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:70484800-70488400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:70485000-70493200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:70485600-70491600	Weak transcription	Fetal Brain Female	brain
10	chr14:70485800-70489000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:70485800-70493000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:70485800-70495600	Weak transcription	Right Atrium	heart
13	chr14:70485800-70497600	Strong transcription	Hela-S3	cervix
14	chr14:70485800-70498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:70486000-70487400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:70486000-70487600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:70486000-70487600	Weak transcription	Fetal Stomach	stomach
18	chr14:70486000-70487800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:70486000-70487800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:70486000-70488600	Enhancers	Primary hematopoietic stem cells	blood
21	chr14:70486000-70488800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr14:70486000-70488800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr14:70486000-70496200	Weak transcription	Pancreas	Pancrea
24	chr14:70486000-70500400	Weak transcription	Aorta	Aorta
25	chr14:70486200-70488000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:70486200-70488800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:70486200-70488800	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr14:70486200-70489000	Weak transcription	NHEK	skin
29	chr14:70486400-70487400	Weak transcription	Adipose Nuclei	Adipose
30	chr14:70486400-70487400	Weak transcription	Brain Angular Gyrus	brain
31	chr14:70486400-70489000	Weak transcription	HMEC	breast
32	chr14:70486400-70490000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:70486400-70491600	Weak transcription	Spleen	Spleen
34	chr14:70486400-70491800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:70486400-70502800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:70486600-70498200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:70487000-70488200	Enhancers	Brain Substantia Nigra	brain
38	chr14:70487000-70488400	Enhancers	Placenta	Placenta
39	chr14:70487000-70494400	Strong transcription	Liver	Liver
40	chr14:70487200-70487400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:70487200-70487400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:70487200-70487400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr14:70487200-70487400	Enhancers	Gastric	stomach
44	chr14:70487200-70487400	Enhancers	Lung	lung
45	chr14:70487200-70487800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:70487200-70488000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr14:70487200-70488000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:70487200-70488000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:70487200-70488000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:70487200-70488000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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