Variant report

Variant	rs12738718
Chromosome Location	chr1:10625654-10625655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10625304..10627854-chr1:10628405..10630255,2	K562	blood:
2	chr1:10624346..10626941-chr1:10645390..10647712,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10864462	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11121582	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11121583	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11121592	0.89[EUR][1000 genomes]
rs11121595	0.84[AFR][1000 genomes]
rs11580310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11585463	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11587326	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11588374	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11588734	1.00[CEU][hapmap]
rs12063765	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12075572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12077637	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12083820	0.92[CEU][hapmap];0.97[EUR][1000 genomes]
rs1411401	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34106242	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34697250	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6702343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7552996	0.92[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1015079	chr1:10611403-10645176	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3453651	chr1:10625531-10626454	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3453652	chr1:10625531-10626454	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12738718	PEX14	cis	multi-tissue	Pritchard

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
2	chr1:10591000-10639400	Weak transcription	Hela-S3	cervix
3	chr1:10591400-10629200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:10602000-10639600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:10603000-10659000	Weak transcription	Primary B cells from cord blood	blood
6	chr1:10605000-10659000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:10606000-10638000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:10607600-10636800	Weak transcription	Primary T cells from cord blood	blood
9	chr1:10607600-10636800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:10607600-10641400	Weak transcription	Lung	lung
11	chr1:10616400-10633600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:10616400-10638200	Weak transcription	Esophagus	oesophagus
13	chr1:10616600-10626000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:10616800-10627200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:10617000-10627000	Weak transcription	HSMMtube	muscle
16	chr1:10622400-10626000	Weak transcription	Osteobl	bone
17	chr1:10622800-10634800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:10623600-10645600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:10624600-10636800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:10624800-10628600	Weak transcription	Fetal Intestine Small	intestine
21	chr1:10624800-10629400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:10624800-10629400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:10624800-10629600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:10624800-10629600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:10624800-10634800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:10624800-10646000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:10625400-10626200	Enhancers	HepG2	liver
28	chr1:10625400-10626400	Enhancers	Liver	Liver

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