Variant report

Variant	rs12587883
Chromosome Location	chr14:81406514-81406515
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	FOS	chr14:81406492-81406845	MCF10A-Er-Src	breast:	n/a	chr14:81406672-81406680 chr14:81406673-81406680 chr14:81406672-81406681
2	FOS	chr14:81406471-81406791	MCF10A-Er-Src	breast:	n/a	chr14:81406672-81406680 chr14:81406673-81406680 chr14:81406672-81406681
3	FOS	chr14:81406492-81406818	MCF10A-Er-Src	breast:	n/a	chr14:81406672-81406680 chr14:81406673-81406680 chr14:81406672-81406681
4	CEBPB	chr14:81406499-81406725	Hela-S3	cervix:	n/a	chr14:81406580-81406591 chr14:81406580-81406593
5	E2F4	chr14:81406297-81406629	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr14:81406503-81406683	K562	blood:	n/a	chr14:81406580-81406591 chr14:81406580-81406593

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81406001..81408090-chr14:81684696..81687286,2	MCF-7	breast:
2	chr14:81405070..81407655-chr14:81893214..81894963,2	K562	blood:

Variant related genes	Relation type
CEP128	TF binding region
ENSG00000140022	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10129919	0.90[JPT][hapmap]
rs10132871	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10498551	0.90[JPT][hapmap]
rs10498552	0.90[JPT][hapmap]
rs11159475	0.90[JPT][hapmap]
rs12147744	0.95[JPT][hapmap]
rs12586161	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs12586908	0.95[JPT][hapmap]
rs12587246	0.82[ASN][1000 genomes]
rs12587367	0.89[JPT][hapmap]
rs12587844	0.95[JPT][hapmap]
rs12588075	0.80[CHD][hapmap];0.91[JPT][hapmap]
rs12589266	0.90[JPT][hapmap]
rs12589935	0.90[JPT][hapmap]
rs12590236	0.87[EUR][1000 genomes]
rs12590277	0.87[EUR][1000 genomes]
rs12590477	0.89[JPT][hapmap]
rs12590579	0.90[JPT][hapmap]
rs12590682	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs12878167	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12880008	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs12882027	0.91[JPT][hapmap]
rs12884630	0.83[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12885049	0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12885819	0.83[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12890859	0.86[CEU][hapmap];0.92[GIH][hapmap];0.87[EUR][1000 genomes]
rs12892149	0.90[JPT][hapmap]
rs12892368	0.90[JPT][hapmap]
rs12892567	0.86[CEU][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap];0.85[EUR][1000 genomes]
rs1458992	0.90[JPT][hapmap]
rs17111078	0.90[JPT][hapmap]
rs17111143	0.90[JPT][hapmap]
rs17111149	0.82[JPT][hapmap]
rs17111151	0.90[JPT][hapmap]
rs17111165	0.91[JPT][hapmap]
rs17111167	0.90[JPT][hapmap]
rs2195101	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2284715	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs2284716	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs2284721	0.81[GIH][hapmap]
rs2371414	0.90[JPT][hapmap]
rs2371417	0.91[JPT][hapmap]
rs2371461	0.95[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2840052	0.86[JPT][hapmap]
rs327433	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs34144142	0.82[ASN][1000 genomes]
rs34611247	0.84[ASN][1000 genomes]
rs35298517	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35728625	0.85[ASN][1000 genomes]
rs35765671	0.85[ASN][1000 genomes]
rs35847336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3861639	0.91[JPT][hapmap]
rs55634365	0.84[ASN][1000 genomes]
rs56757452	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58078360	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60407794	0.86[ASN][1000 genomes]
rs67231034	0.88[ASN][1000 genomes]
rs7149702	0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[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
rs12587883	C14orf145	cis	parietal	SCAN
rs12587883	C14orf145	cis	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:81375400-81407600	Weak transcription	Gastric	stomach
3	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:81387800-81407200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:81390000-81407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:81392200-81407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:81392400-81406600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr14:81392600-81407200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:81392600-81407200	Weak transcription	Fetal Stomach	stomach
10	chr14:81392800-81407400	Weak transcription	Esophagus	oesophagus
11	chr14:81393000-81407600	Weak transcription	Lung	lung
12	chr14:81393600-81407200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr14:81394000-81407400	Weak transcription	Left Ventricle	heart
14	chr14:81395000-81407400	Weak transcription	Fetal Intestine Large	intestine
15	chr14:81396400-81407600	Weak transcription	Aorta	Aorta
16	chr14:81397400-81407200	Weak transcription	Ovary	ovary
17	chr14:81398000-81407200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:81398000-81407200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr14:81398000-81407200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:81398200-81406600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:81398200-81407000	Weak transcription	Primary T cells from cord blood	blood
22	chr14:81398200-81407200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr14:81398200-81407400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:81398400-81406800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:81398800-81406600	Weak transcription	HMEC	breast
26	chr14:81398800-81407200	Weak transcription	Primary B cells from cord blood	blood
27	chr14:81400600-81407200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr14:81400800-81406600	Weak transcription	Fetal Heart	heart
29	chr14:81400800-81407200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:81401000-81407200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr14:81401000-81407400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:81401200-81406600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:81401200-81407200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr14:81402400-81407200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:81402600-81407000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr14:81402800-81407200	Weak transcription	Liver	Liver
37	chr14:81402800-81407200	Weak transcription	Thymus	Thymus
38	chr14:81403000-81406600	Weak transcription	Brain Germinal Matrix	brain
39	chr14:81403200-81407000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:81404000-81407200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:81405200-81406600	Strong transcription	HSMM	muscle
42	chr14:81405400-81407200	Weak transcription	Osteobl	bone
43	chr14:81405600-81406600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:81405600-81406600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:81405600-81406600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:81405600-81407600	Weak transcription	Spleen	Spleen
47	chr14:81405800-81407200	Weak transcription	Fetal Thymus	thymus
48	chr14:81406000-81406600	Enhancers	NHDF-Ad	bronchial
49	chr14:81406000-81406800	Enhancers	A549	lung
50	chr14:81406000-81407000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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