Variant report

Variant	rs227438
Chromosome Location	chr14:70452614-70452615
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	chr14:70450323..70452764-chr14:70464697..70467120,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11158827	0.83[EUR][1000 genomes]
rs12050076	0.89[ASN][1000 genomes]
rs12433177	0.87[ASN][1000 genomes]
rs1471243	0.83[ASN][1000 genomes]
rs17107547	0.81[ASN][1000 genomes]
rs17107592	0.89[ASN][1000 genomes]
rs192024	0.83[ASN][1000 genomes]
rs227412	0.93[ASN][1000 genomes]
rs227416	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs227417	0.96[CEU][hapmap]
rs227419	0.96[CEU][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs227420	0.98[ASN][1000 genomes]
rs227422	0.99[ASN][1000 genomes]
rs227423	0.99[ASN][1000 genomes]
rs227424	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227425	0.81[CHB][hapmap];0.99[ASN][1000 genomes]
rs227426	0.84[CEU][hapmap];0.81[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227427	1.00[CEU][hapmap];0.82[CHB][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227437	0.81[ASN][1000 genomes]
rs227439	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56031625	0.89[ASN][1000 genomes]
rs61305	0.98[ASN][1000 genomes]
rs67294558	0.81[ASN][1000 genomes]
rs7151788	0.83[ASN][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
rs227438	SMOC1	cis	Artery Tibial	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70433200-70454000	Strong transcription	Liver	Liver
2	chr14:70439000-70458800	Weak transcription	Gastric	stomach
3	chr14:70439800-70477200	Weak transcription	Spleen	Spleen
4	chr14:70447000-70454400	Genic enhancers	Hela-S3	cervix
5	chr14:70447600-70454400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:70448200-70453000	Weak transcription	Brain Germinal Matrix	brain
7	chr14:70448200-70455000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:70448400-70453400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:70448400-70453600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:70448600-70453400	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:70449600-70453800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:70449800-70452800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:70450000-70458600	Weak transcription	Aorta	Aorta
14	chr14:70450600-70453200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:70450600-70453400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:70450600-70453400	Weak transcription	Brain Substantia Nigra	brain
17	chr14:70450600-70453600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:70450600-70453800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:70450600-70453800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:70450600-70454000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:70450600-70454000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:70450600-70456400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:70450600-70457000	Weak transcription	Fetal Brain Male	brain
24	chr14:70450600-70464800	Weak transcription	Fetal Stomach	stomach
25	chr14:70450600-70477200	Weak transcription	Fetal Brain Female	brain
26	chr14:70451600-70453000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:70451800-70452800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:70451800-70452800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:70451800-70452800	Enhancers	HMEC	breast
30	chr14:70451800-70453000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:70451800-70453200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:70451800-70453200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:70451800-70453200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:70451800-70453200	Enhancers	NHEK	skin
35	chr14:70451800-70459200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr14:70452000-70452800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr14:70452000-70453600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:70452000-70454000	Strong transcription	HepG2	liver
39	chr14:70452400-70453400	Weak transcription	Brain Anterior Caudate	brain
40	chr14:70452400-70453600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:70452400-70458400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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