Variant report

Variant	rs3743212
Chromosome Location	chr15:75419543-75419544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75416113..75419586-chr15:75420394..75423438,3	K562	blood:
2	chr15:75412122..75415220-chr15:75417317..75419592,3	MCF-7	breast:
3	chr15:75419131..75421274-chr15:75493053..75495284,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167173	Chromatin interaction
ENSG00000252722	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12148355	0.84[ASN][1000 genomes]
rs12591175	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs3812943	0.89[JPT][hapmap]
rs3816261	0.88[JPT][hapmap]
rs7166105	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs8024931	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3743212	PPCDC	cis	Artery Aorta	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75401200-75430600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:75412800-75433600	Weak transcription	Aorta	Aorta
3	chr15:75415000-75425400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr15:75415400-75423000	Enhancers	Primary hematopoietic stem cells	blood
5	chr15:75415600-75419800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:75415800-75422200	Enhancers	GM12878-XiMat	blood
7	chr15:75416000-75419800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr15:75416000-75420000	Enhancers	Primary B cells from cord blood	blood
9	chr15:75416400-75420400	Enhancers	Hela-S3	cervix
10	chr15:75416400-75421400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:75416400-75424000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr15:75416600-75422000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:75417000-75422000	Weak transcription	Adipose Nuclei	Adipose
14	chr15:75417000-75422000	Weak transcription	HMEC	breast
15	chr15:75417600-75422000	Weak transcription	Fetal Thymus	thymus
16	chr15:75417600-75423200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:75417800-75421800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr15:75417800-75421800	Weak transcription	HepG2	liver
19	chr15:75417800-75422200	Weak transcription	Colonic Mucosa	Colon
20	chr15:75417800-75430600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr15:75418400-75419600	Enhancers	Spleen	Spleen
22	chr15:75418400-75422000	Weak transcription	K562	blood
23	chr15:75418600-75420600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr15:75418800-75419800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr15:75418800-75421800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr15:75418800-75423000	Weak transcription	Lung	lung
27	chr15:75419000-75420200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:75419200-75420200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:75419400-75419600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:75419400-75420000	Enhancers	A549	lung

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