Variant report

Variant	rs1453007
Chromosome Location	chr14:64974203-64974204
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	POLR2A	chr14:64973232-64974789	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:64974107-64974878	GM12878	blood:	n/a	n/a
3	MYC	chr14:64974004-64974523	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr14:64974107-64974540	GM12892	blood:	n/a	n/a
5	MYC	chr14:64974123-64974447	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr14:64974164-64974380	GM12891	blood:	n/a	n/a
7	IRF1	chr14:64974029-64974277	K562	blood:	n/a	chr14:64974158-64974168 chr14:64974157-64974169 chr14:64974154-64974168 chr14:64974157-64974174 chr14:64974157-64974171 chr14:64974158-64974169 chr14:64974155-64974172 chr14:64974155-64974169 chr14:64974156-64974169 chr14:64974156-64974169 chr14:64974157-64974169
8	POLR2A	chr14:64974010-64974920	GM12878	blood:	n/a	n/a
9	RAD21	chr14:64974109-64974291	IMR90	lung:	n/a	n/a
10	FOS	chr14:64974112-64974452	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr14:64974112-64974463	GM12891	blood:	n/a	n/a
12	FOS	chr14:64974099-64974524	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr14:64974140-64976033	A549	lung:	n/a	n/a
14	POLR2A	chr14:64974085-64974931	GM12892	blood:	n/a	n/a
15	POLR2A	chr14:64974156-64974358	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr14:64974140-64974290	SAEC	small airway:	n/a	n/a
17	STAT3	chr14:64974203-64974402	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr14:64974106-64974459	MCF10A-Er-Src	breast:	n/a	n/a
19	WRNIP1	chr14:64974166-64974835	GM12878	blood:	n/a	n/a
20	IRF1	chr14:64974068-64974339	K562	blood:	n/a	chr14:64974158-64974168 chr14:64974157-64974169 chr14:64974154-64974168 chr14:64974157-64974174 chr14:64974157-64974171 chr14:64974158-64974169 chr14:64974155-64974172 chr14:64974155-64974169 chr14:64974156-64974169 chr14:64974156-64974169 chr14:64974157-64974169
21	FOS	chr14:64973939-64974445	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:64973370..64976227-chr20:52238868..52240910,2	MCF-7	breast:
2	chr14:64952330..64955037-chr14:64972049..64976293,4	K562	blood:
3	chr14:64973577..64975906-chr14:65136944..65139422,2	MCF-7	breast:
4	chr14:64974117..64976754-chr14:65005899..65008393,2	MCF-7	breast:
5	chr14:64959822..64962033-chr14:64973410..64976563,3	K562	blood:
6	chr14:64972864..64974430-chr14:65133703..65136620,2	MCF-7	breast:
7	chr14:64853592..64856673-chr14:64970174..64974352,5	K562	blood:
8	chr14:64952581..64955037-chr14:64973773..64976293,2	K562	blood:
9	chr14:64972127..64974828-chr17:57925743..57928112,2	MCF-7	breast:
10	chr14:64972191..64974986-chr14:64988003..64989901,3	MCF-7	breast:
11	chr14:64973191..64975361-chr14:65169489..65172420,3	MCF-7	breast:
12	chr14:64967941..64976890-chr14:65001097..65012463,31	MCF-7	breast:
13	chr14:64972763..64974388-chr14:65172588..65174166,2	MCF-7	breast:
14	chr14:64804345..64806139-chr14:64972304..64974654,2	MCF-7	breast:

Variant related genes	Relation type
ZBTB25	TF binding region
ENSG00000126803	Chromatin interaction
ENSG00000259160	Chromatin interaction
ENSG00000100714	Chromatin interaction
ENSG00000214770	Chromatin interaction
ENSG00000259116	Chromatin interaction
ENSG00000140009	Chromatin interaction
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10131155	0.90[ASN][1000 genomes]
rs10131416	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10132424	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10132969	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10133243	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10133411	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10133696	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10133848	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10134530	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10136732	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10138256	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10142835	0.81[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs10142879	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10143170	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10143839	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10145001	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10145005	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10145013	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10147522	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10149286	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10150781	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10873173	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11158542	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11158543	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11158544	0.88[ASN][1000 genomes]
rs11623457	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11625265	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11626222	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11627387	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11628221	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11845653	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11847054	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11848179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11849935	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11851236	0.81[CEU][hapmap];0.93[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12050238	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12050358	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12385910	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12385918	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12586212	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12588886	1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12589947	0.85[JPT][hapmap];0.96[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1453004	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1453009	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1470851	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17101896	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1966865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1980519	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1980520	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1982440	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2045024	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2123459	1.00[CEU][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2123460	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2198347	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2281603	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs28446048	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28469649	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28626711	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs28666045	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28730549	0.93[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28738919	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28766386	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28827477	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35115595	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35451957	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3742606	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3742608	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3783722	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3783723	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3783724	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3783727	0.83[EUR][1000 genomes]
rs4632045	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57525201	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58893738	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs59213791	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs59440409	0.96[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs59512674	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs59577187	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60908674	0.96[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61615397	0.96[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61985663	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61985668	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61985706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61985707	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs61985711	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6573559	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7160131	0.82[CEU][hapmap]
rs7160634	0.93[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73265639	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73265640	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73265641	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73267743	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73267744	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs745686	0.84[EUR][1000 genomes]
rs8016556	0.81[CEU][hapmap]
rs926803	0.93[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9323450	1.00[CEU][hapmap]
rs9323451	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9323452	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521823	chr14:64969342-64995694	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1453007	ZBTB25	cis	multi-tissue	Pritchard
rs1453007	ZBTB25	cis	Nerve Tibial	GTEx
rs1453007	ZBTB25	Cis_1M	lymphoblastoid	RTeQTL
rs1453007	ZBTB25	cis	lung	GTEx
rs1453007	ZBTB1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64971800-64975200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr14:64972200-64974800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr14:64972200-64975400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:64972400-64975200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:64972400-64975800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:64972600-64974400	Flanking Active TSS	NHEK	skin
7	chr14:64972800-64974400	Enhancers	Brain Cingulate Gyrus	brain
8	chr14:64972800-64974600	Enhancers	Brain Substantia Nigra	brain
9	chr14:64972800-64974800	Enhancers	Brain Angular Gyrus	brain
10	chr14:64972800-64974800	Enhancers	Fetal Brain Female	brain
11	chr14:64972800-64975000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:64972800-64975200	Enhancers	Colon Smooth Muscle	Colon
13	chr14:64972800-64975600	Weak transcription	Esophagus	oesophagus
14	chr14:64972800-64975600	Weak transcription	Gastric	stomach
15	chr14:64972800-64975800	Weak transcription	Lung	lung
16	chr14:64972800-64976200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr14:64972800-64976400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:64972800-64977000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:64972800-64978800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr14:64972800-64979200	Enhancers	Small Intestine	intestine
21	chr14:64972800-64988400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:64972800-64991600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:64973000-64974400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:64973000-64974400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:64973000-64974800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:64973000-64975200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:64973000-64975200	Enhancers	Fetal Stomach	stomach
28	chr14:64973000-64975600	Weak transcription	Placenta	Placenta
29	chr14:64973000-64976000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr14:64973000-64976400	Enhancers	Primary hematopoietic stem cells	blood
31	chr14:64973000-64979400	Enhancers	Primary B cells from peripheral blood	blood
32	chr14:64973200-64974400	Flanking Active TSS	A549	lung
33	chr14:64973200-64974400	Flanking Active TSS	HUVEC	blood vessel
34	chr14:64973200-64974400	Flanking Active TSS	Osteobl	bone
35	chr14:64973200-64974600	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr14:64973200-64974600	Flanking Active TSS	Hela-S3	cervix
37	chr14:64973200-64974600	Flanking Active TSS	HMEC	breast
38	chr14:64973200-64974800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:64973200-64974800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr14:64973200-64974800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr14:64973200-64974800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:64973200-64976000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr14:64973200-64976000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr14:64973200-64976200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr14:64973200-64987800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr14:64973400-64974600	Enhancers	Brain Anterior Caudate	brain
47	chr14:64973400-64974800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr14:64973400-64974800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:64973400-64974800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:64973400-64975200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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