Variant report

Variant	rs712327
Chromosome Location	chr14:37239005-37239006
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:37238888..37241236-chr14:37420681..37423227,2	MCF-7	breast:
2	chr14:37230759..37233654-chr14:37238626..37240707,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266327	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10139088	0.90[CHB][hapmap]
rs10143550	0.90[CHB][hapmap]
rs1325532	0.90[CHB][hapmap]
rs1429847	1.00[CHB][hapmap]
rs1806899	0.82[LWK][hapmap]
rs1998764	0.90[EUR][1000 genomes]
rs2253012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs2764962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs2774035	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs712325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs712326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712330	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs730643	0.87[LWK][hapmap]
rs8021974	0.90[CHB][hapmap]
rs848087	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs848088	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs848089	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs848091	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs848120	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848121	1.00[JPT][hapmap]
rs848123	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs848124	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs712327	EAPP	cis	cerebellum	SCAN
rs712327	EAPP	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37237400-37240600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:37237800-37241200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:37238000-37242000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:37238000-37242000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:37238000-37242400	Weak transcription	HMEC	breast
6	chr14:37238000-37242600	Weak transcription	NHEK	skin
7	chr14:37238000-37243000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:37238200-37243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:37238400-37240600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:37238400-37240600	Weak transcription	Esophagus	oesophagus
11	chr14:37238400-37242200	Weak transcription	K562	blood
12	chr14:37238400-37242400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:37238400-37243000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:37239000-37240000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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