Variant report

Variant	rs7151788
Chromosome Location	chr14:70469255-70469256
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70469147..70471287-chr14:70474432..70477104,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10134291	0.85[CHD][hapmap];1.00[GIH][hapmap]
rs10134965	0.85[CHD][hapmap];1.00[GIH][hapmap]
rs11158827	0.85[CHD][hapmap];0.95[GIH][hapmap];0.83[MEX][hapmap]
rs12050076	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs12433177	0.91[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs12885068	0.85[CHD][hapmap]
rs12885683	0.85[CHD][hapmap];1.00[GIH][hapmap]
rs1471243	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107592	0.91[CHB][hapmap];0.94[ASN][1000 genomes]
rs17107610	0.92[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs227405	0.82[CHB][hapmap]
rs227407	0.82[JPT][hapmap]
rs227412	0.83[CHB][hapmap];0.80[CHD][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs227416	0.83[CHB][hapmap];0.80[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs227417	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs227419	0.82[CHB][hapmap];0.80[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs227420	0.85[ASN][1000 genomes]
rs227422	0.83[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs227423	0.84[ASN][1000 genomes]
rs227424	0.83[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs227425	0.80[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs227426	0.95[GIH][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs227427	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs227438	0.83[ASN][1000 genomes]
rs227439	0.83[ASN][1000 genomes]
rs3825739	0.85[CHD][hapmap]
rs56031625	0.94[ASN][1000 genomes]
rs61305	0.83[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs8010305	0.84[MEX][hapmap]
rs8012912	0.85[CHD][hapmap];0.95[GIH][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7151788	FAM71D	cis	cerebellum	SCAN
rs7151788	SMOC1	cis	Artery Tibial	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70439800-70477200	Weak transcription	Spleen	Spleen
2	chr14:70450600-70477200	Weak transcription	Fetal Brain Female	brain
3	chr14:70457800-70484800	Weak transcription	Brain Substantia Nigra	brain
4	chr14:70458600-70480800	Weak transcription	Brain Germinal Matrix	brain
5	chr14:70459000-70484800	Weak transcription	Gastric	stomach
6	chr14:70460000-70473800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:70460400-70472200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:70462200-70475600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:70463800-70469400	Enhancers	Pancreas	Pancrea
10	chr14:70465000-70473600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:70465200-70477000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:70466000-70475600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:70466200-70471200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:70466200-70484800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:70466600-70474400	Weak transcription	Fetal Stomach	stomach
16	chr14:70466800-70469800	Enhancers	Liver	Liver
17	chr14:70466800-70472400	Genic enhancers	Hela-S3	cervix
18	chr14:70467400-70469800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:70467600-70476000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:70467800-70475800	Weak transcription	NHEK	skin
21	chr14:70467800-70476200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:70468000-70469400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:70468000-70469400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:70468200-70470400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:70468400-70484400	Weak transcription	A549	lung
26	chr14:70468600-70473400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:70468600-70475600	Weak transcription	HMEC	breast
28	chr14:70468800-70475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:70469000-70469400	Flanking Active TSS	HepG2	liver
30	chr14:70469200-70469800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:70469200-70470200	Enhancers	Pancreatic Islets	Pancreatic Islet

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