Variant report

Variant	rs227407
Chromosome Location	chr14:70482433-70482434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1471243	0.82[JPT][hapmap]
rs227405	0.82[MEX][hapmap]
rs7151788	0.82[JPT][hapmap]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs227407	SMOC1	cis	Artery Tibial	GTEx
rs227407	FAM71D	cis	cerebellum	SCAN
rs227407	PCNX	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70457800-70484800	Weak transcription	Brain Substantia Nigra	brain
2	chr14:70459000-70484800	Weak transcription	Gastric	stomach
3	chr14:70466200-70484800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr14:70468400-70484400	Weak transcription	A549	lung
5	chr14:70469800-70484800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:70472400-70485400	Strong transcription	Hela-S3	cervix
7	chr14:70475800-70484800	Weak transcription	Brain Hippocampus Middle	brain
8	chr14:70475800-70487200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:70476000-70500000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:70476200-70490600	Weak transcription	Fetal Brain Male	brain
11	chr14:70476200-70499000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:70477000-70483000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:70477000-70484200	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:70477400-70484600	Weak transcription	Fetal Stomach	stomach
15	chr14:70478400-70484200	Weak transcription	NHEK	skin
16	chr14:70478400-70484800	Weak transcription	Brain Anterior Caudate	brain
17	chr14:70478600-70484200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:70478600-70484400	Weak transcription	Spleen	Spleen
19	chr14:70479000-70484000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:70480000-70484600	Strong transcription	Liver	Liver
21	chr14:70481000-70485200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:70481200-70483200	Weak transcription	Fetal Brain Female	brain
23	chr14:70481600-70483600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:70481600-70484800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:70481600-70488200	Weak transcription	Brain Germinal Matrix	brain
26	chr14:70482000-70484000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:70482000-70485200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:70482000-70485400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:70482200-70483000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:70482200-70484800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr14:70482200-70488200	Weak transcription	HepG2	liver
32	chr14:70482400-70483600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:70482400-70484600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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