Variant report

Variant	rs745686
Chromosome Location	chr14:64930632-64930633
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	chr14:64929177-64931093	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr14:64927628-64931783	Hela-S3	cervix:	n/a	n/a
3	SPI1	chr14:64929645-64930671	GM12878	blood:	n/a	chr14:64930181-64930190
4	NFATC1	chr14:64929853-64930638	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:64928654-64932081	K562	blood:	n/a	n/a
6	PML	chr14:64929726-64930710	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64930172..64935199-chr14:64969400..64972494,10	MCF-7	breast:
2	chr14:64930505..64934030-chr14:64968774..64972974,8	MCF-7	breast:

Variant related genes	Relation type
AKAP5	TF binding region
ENSG00000126804	Chromatin interaction
ENSG00000089775	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10131416	0.85[EUR][1000 genomes]
rs10132969	0.85[EUR][1000 genomes]
rs10133696	0.87[GIH][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs10133848	0.84[EUR][1000 genomes]
rs10134530	0.87[GIH][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs10136732	0.87[GIH][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs10142879	0.84[GIH][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs10143839	0.85[EUR][1000 genomes]
rs10145001	0.93[EUR][1000 genomes]
rs10145005	0.85[EUR][1000 genomes]
rs10145013	0.87[GIH][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs10147522	0.94[EUR][1000 genomes]
rs10150781	0.85[EUR][1000 genomes]
rs10873173	0.84[EUR][1000 genomes]
rs11158542	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11158543	0.83[EUR][1000 genomes]
rs11623457	0.85[EUR][1000 genomes]
rs11625265	0.87[GIH][hapmap];0.86[TSI][hapmap]
rs11626222	0.85[EUR][1000 genomes]
rs11627122	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11627387	0.87[GIH][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs11628221	0.84[EUR][1000 genomes]
rs11845653	0.85[EUR][1000 genomes]
rs11848179	0.84[EUR][1000 genomes]
rs11849935	0.85[EUR][1000 genomes]
rs11851236	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12050238	0.84[EUR][1000 genomes]
rs12050358	0.87[GIH][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs1453007	0.84[EUR][1000 genomes]
rs1470851	0.87[GIH][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs1966865	0.84[EUR][1000 genomes]
rs1980519	0.85[EUR][1000 genomes]
rs1980520	0.87[GIH][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs2045024	0.90[GIH][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs2123459	0.87[GIH][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs2123460	0.87[GIH][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs2198347	0.87[GIH][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs28469649	0.84[EUR][1000 genomes]
rs28666045	0.83[EUR][1000 genomes]
rs28730549	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs28738919	0.85[EUR][1000 genomes]
rs28766386	0.90[GIH][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs35115595	0.84[EUR][1000 genomes]
rs3742606	0.90[GIH][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs3742608	0.84[EUR][1000 genomes]
rs3783725	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3783727	0.87[EUR][1000 genomes]
rs4632045	0.85[EUR][1000 genomes]
rs57525201	0.85[EUR][1000 genomes]
rs59577187	0.85[EUR][1000 genomes]
rs61985663	0.85[EUR][1000 genomes]
rs61985668	0.85[EUR][1000 genomes]
rs61985706	0.83[EUR][1000 genomes]
rs6573559	0.87[GIH][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs7160634	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs73265639	0.85[EUR][1000 genomes]
rs73265640	0.85[EUR][1000 genomes]
rs73265641	0.84[EUR][1000 genomes]
rs8016556	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8022537	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8022545	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs926803	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs9323450	0.87[CHB][hapmap];0.88[CHD][hapmap];0.90[MEX][hapmap];0.89[ASN][1000 genomes]
rs9323451	0.81[EUR][1000 genomes]
rs9323452	0.84[EUR][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	nsv902022	chr14:64926581-64958638	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs745686	ZBTB25	cis	multi-tissue	Pritchard
rs745686	ZBTB25	cis	lymphoblastoid	seeQTL
rs745686	ZBTB1	cis	cerebellum	SCAN
rs745686	ZBTB25	Cis_1M	lymphoblastoid	RTeQTL
rs745686	SPTB	cis	cerebellum	SCAN
rs745686	ZBTB25	cis	parietal	SCAN
rs745686	SYT16	cis	parietal	SCAN
rs745686	ZBTB25	cis	cerebellum	SCAN
rs745686	MTHFD1	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64856200-64931200	Weak transcription	Stomach Mucosa	stomach
2	chr14:64861800-64931600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:64900400-64931800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:64905800-64931400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:64910600-64931200	Weak transcription	Fetal Heart	heart
6	chr14:64911200-64931400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:64911800-64931400	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:64913800-64931200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:64915000-64931000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:64915400-64931200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr14:64917400-64930800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:64920800-64931400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:64921000-64931200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:64921000-64931200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr14:64921600-64931400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:64921800-64930800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:64921800-64931400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:64922200-64931200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:64922200-64931200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr14:64922200-64931200	Weak transcription	Spleen	Spleen
21	chr14:64922200-64931400	Weak transcription	Colonic Mucosa	Colon
22	chr14:64922200-64931400	Weak transcription	Lung	lung
23	chr14:64922400-64931400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:64922400-64931400	Weak transcription	Brain Substantia Nigra	brain
25	chr14:64922600-64931200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr14:64922600-64931400	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:64922800-64931400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:64922800-64931600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:64923000-64931200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:64923000-64931200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr14:64923000-64931400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:64923000-64931400	Weak transcription	Aorta	Aorta
33	chr14:64923000-64931400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr14:64923000-64931400	Weak transcription	Fetal Brain Male	brain
35	chr14:64923000-64931400	Weak transcription	Fetal Kidney	kidney
36	chr14:64923000-64931400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:64923000-64931400	Weak transcription	HSMMtube	muscle
38	chr14:64923000-64931600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:64923000-64931600	Weak transcription	Pancreas	Pancrea
40	chr14:64923000-64931800	Weak transcription	Esophagus	oesophagus
41	chr14:64923000-64931800	Weak transcription	Gastric	stomach
42	chr14:64923400-64931200	Weak transcription	HUVEC	blood vessel
43	chr14:64923400-64931400	Weak transcription	Small Intestine	intestine
44	chr14:64923400-64931400	Weak transcription	Osteobl	bone
45	chr14:64923400-64931600	Weak transcription	Left Ventricle	heart
46	chr14:64923600-64931400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:64924000-64930800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr14:64924000-64931400	Weak transcription	K562	blood
49	chr14:64924200-64931400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:64924800-64931200	Weak transcription	Primary T cells fromperipheralblood	blood

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