Variant report

Variant	rs12433177
Chromosome Location	chr14:70462361-70462362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10134291	0.84[CHD][hapmap]
rs10134965	0.84[CHD][hapmap]
rs11158827	0.84[CHD][hapmap]
rs12050076	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12885068	0.84[CHD][hapmap];1.00[GIH][hapmap]
rs12885683	0.84[CHD][hapmap]
rs1471243	0.91[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs17107592	0.83[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs17107610	0.84[CHD][hapmap]
rs227412	0.91[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227416	0.91[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs227417	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs227419	0.91[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs227420	0.89[ASN][1000 genomes]
rs227422	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs227423	0.89[ASN][1000 genomes]
rs227424	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs227425	0.87[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs227426	0.87[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs227427	0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs227437	1.00[GIH][hapmap]
rs227438	0.87[ASN][1000 genomes]
rs227439	0.87[ASN][1000 genomes]
rs227444	0.86[JPT][hapmap]
rs3825739	0.84[CHD][hapmap];1.00[GIH][hapmap]
rs56031625	0.90[ASN][1000 genomes]
rs61305	0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7151788	0.91[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs8012912	0.84[CHD][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12433177	SMOC1	cis	Artery Tibial	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70439800-70477200	Weak transcription	Spleen	Spleen
2	chr14:70450600-70464800	Weak transcription	Fetal Stomach	stomach
3	chr14:70450600-70477200	Weak transcription	Fetal Brain Female	brain
4	chr14:70453000-70464800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:70453200-70462600	Weak transcription	NHEK	skin
6	chr14:70453600-70462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:70456800-70463800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:70456800-70463800	Weak transcription	Pancreas	Pancrea
9	chr14:70457400-70464200	Weak transcription	HepG2	liver
10	chr14:70457800-70484800	Weak transcription	Brain Substantia Nigra	brain
11	chr14:70458400-70464600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:70458600-70463800	Weak transcription	Liver	Liver
13	chr14:70458600-70480800	Weak transcription	Brain Germinal Matrix	brain
14	chr14:70458800-70464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:70458800-70465400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:70459000-70484800	Weak transcription	Gastric	stomach
17	chr14:70460000-70473800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:70460200-70468000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:70460400-70472200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:70461000-70463000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:70461200-70463200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:70461200-70464400	Weak transcription	Osteobl	bone
23	chr14:70461400-70462600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:70462000-70463600	Enhancers	Fetal Intestine Large	intestine
25	chr14:70462000-70468600	Enhancers	HMEC	breast
26	chr14:70462200-70463400	Enhancers	Fetal Intestine Small	intestine
27	chr14:70462200-70465400	Enhancers	Hela-S3	cervix
28	chr14:70462200-70475600	Weak transcription	H9 Cell Line	embryonic stem cell

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