Variant report

Variant	rs9551767
Chromosome Location	chr13:30462712-30462713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:30462522-30462844	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr13:30462488-30462889	ECC-1	luminal epithelium:	n/a	n/a
3	CEBPB	chr13:30462490-30462887	MCF-7	breast:	n/a	n/a
4	CEBPB	chr13:30462441-30462920	MCF-7	breast:	n/a	n/a
5	SMC3	chr13:30462645-30462797	HepG2	liver:	n/a	n/a
6	CEBPB	chr13:30462444-30462940	A549	lung:	n/a	n/a
7	CEBPB	chr13:30462484-30462858	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr13:30462489-30462856	K562	blood:	n/a	n/a
9	CEBPB	chr13:30462480-30462860	A549	lung:	n/a	n/a
10	CEBPB	chr13:30462518-30462766	ECC-1	luminal epithelium:	n/a	n/a
11	CEBPB	chr13:30462475-30462863	IMR90	lung:	n/a	n/a
12	CEBPB	chr13:30462498-30462853	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
LINC00297	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9578147	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[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];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9551767	PABPC3	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30452200-30468000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30452200-30468200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:30452600-30472200	Weak transcription	Ovary	ovary
4	chr13:30456200-30462800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:30458200-30463400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:30459400-30462800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr13:30459400-30463600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:30459600-30463400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:30459600-30463600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:30460000-30462800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:30461000-30463400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr13:30461200-30463000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:30461200-30466400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr13:30461400-30463400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:30461600-30462800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr13:30461600-30463000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr13:30461800-30462800	Enhancers	Brain Anterior Caudate	brain
18	chr13:30461800-30463400	Enhancers	Brain Hippocampus Middle	brain
19	chr13:30461800-30463600	Enhancers	Brain Cingulate Gyrus	brain
20	chr13:30462000-30462800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr13:30462000-30463400	Enhancers	Brain Substantia Nigra	brain
22	chr13:30462000-30468200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:30462200-30462800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr13:30462200-30463000	Enhancers	Fetal Lung	lung
25	chr13:30462200-30463600	Enhancers	Brain Angular Gyrus	brain
26	chr13:30462400-30462800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:30462400-30463000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:30462400-30463000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr13:30462400-30463000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:30462400-30463000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:30462400-30463800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:30462400-30466200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr13:30462400-30466200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr13:30462400-30468200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr13:30462600-30463400	Enhancers	Cortex derived primary cultured neurospheres	brain

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