Variant report

Variant	rs2371461
Chromosome Location	chr14:81411757-81411758
allele	A/G
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	chr14:81411592-81411951	A549	lung:	n/a	n/a
2	CEBPB	chr14:81411597-81411900	K562	blood:	n/a	n/a
3	CEBPB	chr14:81411638-81411887	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr14:81411575-81411956	IMR90	lung:	n/a	n/a
5	CEBPB	chr14:81411632-81411788	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr14:81411593-81411942	HepG2	liver:	n/a	n/a
7	JUND	chr14:81411666-81411832	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81409086..81412079-chr14:81684654..81686943,2	K562	blood:

Variant related genes	Relation type
CEP128	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10129919	0.81[JPT][hapmap]
rs10132871	0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs10498551	0.81[JPT][hapmap]
rs10498552	0.81[JPT][hapmap]
rs11159475	0.81[JPT][hapmap]
rs12147744	0.84[JPT][hapmap]
rs12433134	0.84[YRI][hapmap]
rs12434318	0.85[YRI][hapmap]
rs12586908	0.86[JPT][hapmap]
rs12587844	0.86[JPT][hapmap]
rs12587883	0.95[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs12588075	0.82[JPT][hapmap]
rs12589266	0.81[JPT][hapmap]
rs12589935	0.81[JPT][hapmap]
rs12590579	0.81[JPT][hapmap]
rs12590682	0.86[JPT][hapmap]
rs12878167	0.84[ASN][1000 genomes]
rs12880008	0.82[JPT][hapmap]
rs12882027	0.82[JPT][hapmap]
rs12884630	0.85[JPT][hapmap]
rs12885049	0.86[JPT][hapmap]
rs12885819	0.86[JPT][hapmap]
rs12892149	0.81[JPT][hapmap]
rs12892368	0.80[JPT][hapmap]
rs1458992	0.81[JPT][hapmap]
rs17111078	0.82[JPT][hapmap]
rs17111143	0.81[JPT][hapmap]
rs17111151	0.81[JPT][hapmap]
rs17111165	0.82[JPT][hapmap]
rs17111167	0.81[JPT][hapmap]
rs2195101	0.91[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2371414	0.80[JPT][hapmap]
rs2371417	0.82[JPT][hapmap]
rs327433	0.82[CHD][hapmap]
rs35298517	0.88[ASN][1000 genomes]
rs35847336	0.88[ASN][1000 genomes]
rs3742720	0.95[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs3861639	0.82[JPT][hapmap]
rs56343573	0.81[AFR][1000 genomes]
rs56757452	0.84[ASN][1000 genomes]
rs58078360	0.82[ASN][1000 genomes]
rs6574612	0.92[LWK][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs67231034	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149702	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers 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
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2371461	C14orf145	cis	cerebellum	SCAN
rs2371461	C14orf145	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81408800-81411800	Weak transcription	Fetal Thymus	thymus
2	chr14:81408800-81412400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:81408800-81414200	Weak transcription	Liver	Liver
4	chr14:81408800-81421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:81409000-81414000	Weak transcription	Thymus	Thymus
6	chr14:81409200-81411800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:81409200-81411800	Weak transcription	NHEK	skin
8	chr14:81409200-81412000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:81409200-81412000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:81409200-81415400	Weak transcription	Placenta	Placenta
11	chr14:81409600-81412000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:81409600-81412600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr14:81410000-81412200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:81410200-81420000	Weak transcription	Dnd41	blood
15	chr14:81411400-81413600	Enhancers	HMEC	breast

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