Variant report

Variant	rs10426645
Chromosome Location	chr19:39523539-39523540
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	MAX	chr19:39523002-39523583	K562	blood:	n/a	n/a
2	E2F6	chr19:39523034-39523664	H1-hESC	embryonic stem cell:	n/a	chr19:39523144-39523154
3	TAL1	chr19:39523496-39523698	K562	blood:	n/a	n/a
4	YY1	chr19:39523007-39523567	H1-hESC	embryonic stem cell:	n/a	chr19:39523280-39523291 chr19:39523221-39523232 chr19:39523106-39523117
5	POLR2A	chr19:39521624-39523805	K562	blood:	n/a	n/a
6	TCF7L2	chr19:39523156-39523865	PANC-1	pancreas:	n/a	n/a
7	TCF12	chr19:39523071-39523562	H1-hESC	embryonic stem cell:	n/a	n/a
8	CBX3	chr19:39523245-39523577	K562	blood:	n/a	n/a
9	UBTF	chr19:39523271-39523678	K562	blood:	n/a	n/a
10	NR2F2	chr19:39523263-39523827	K562	blood:	n/a	n/a
11	POLR2A	chr19:39523538-39523733	MCF-7	breast:	n/a	n/a
12	SIN3AK20	chr19:39521478-39523896	PANC-1	pancreas:	n/a	n/a
13	MAX	chr19:39522835-39523565	H1-hESC	embryonic stem cell:	n/a	chr19:39522871-39522881
14	MAX	chr19:39521862-39523558	H1-hESC	embryonic stem cell:	n/a	chr19:39522034-39522044 chr19:39522040-39522050 chr19:39522036-39522051 chr19:39522040-39522049 chr19:39522871-39522881 chr19:39522039-39522050 chr19:39522041-39522048
15	SIN3AK20	chr19:39521601-39523985	PANC-1	pancreas:	n/a	n/a
16	SP1	chr19:39523029-39523640	H1-hESC	embryonic stem cell:	n/a	chr19:39523196-39523206 chr19:39523227-39523239 chr19:39523229-39523238 chr19:39523289-39523302 chr19:39523228-39523237 chr19:39523227-39523239
17	POLR2A	chr19:39520454-39524689	PANC-1	pancreas:	n/a	n/a
18	TCF12	chr19:39521363-39523919	A549	lung:	n/a	n/a
19	MAX	chr19:39521380-39523937	A549	lung:	n/a	chr19:39522034-39522044 chr19:39522040-39522050 chr19:39522036-39522051 chr19:39522040-39522049 chr19:39522871-39522881 chr19:39522039-39522050 chr19:39522041-39522048
20	FOSL2	chr19:39523368-39524115	A549	lung:	n/a	n/a
21	YY1	chr19:39523275-39523577	GM12878	blood:	n/a	chr19:39523280-39523291
22	REST	chr19:39521568-39523982	PANC-1	pancreas:	n/a	n/a
23	E2F6	chr19:39521584-39523594	A549	lung:	n/a	chr19:39522088-39522097 chr19:39523144-39523154
24	EP300	chr19:39523427-39523647	K562	blood:	n/a	n/a
25	POLR2A	chr19:39519979-39524546	PANC-1	pancreas:	n/a	n/a
26	IRF1	chr19:39523456-39523560	K562	blood:	n/a	n/a
27	POLR2A	chr19:39523006-39523560	HCT-116	colon:	n/a	n/a
28	BCL3	chr19:39522909-39523941	A549	lung:	n/a	chr19:39522933-39522942

No.	Distal block	Cell Line	Cell type
1	chr19:39464957..39467280-chr19:39522120..39523795,2	K562	blood:
2	chr19:39464164..39468178-chr19:39520932..39524285,4	MCF-7	breast:
3	chr19:39521357..39523979-chr19:39614875..39616703,2	MCF-7	breast:

Variant related genes	Relation type
FBXO27	TF binding region
ENSG00000130669	Chromatin interaction
ENSG00000269190	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10406222	0.89[ASN][1000 genomes]
rs10416823	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10417436	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10424632	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10424827	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10426661	0.87[ASN][1000 genomes]
rs1062261	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10853723	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10853724	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11083499	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11083500	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11083501	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11083502	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1139251	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11667641	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11670486	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670520	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11673044	0.82[ASN][1000 genomes]
rs11673637	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11880441	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11883422	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12609806	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12610200	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12610248	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12971842	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12972850	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12972978	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12978163	0.90[ASN][1000 genomes]
rs12978749	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12982199	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12982349	0.92[ASN][1000 genomes]
rs12982529	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12985447	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1651748	0.84[EUR][1000 genomes]
rs1840745	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1840746	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1840747	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1840748	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1864191	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1869983	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36154890	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3848623	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4280369	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4802007	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4802009	0.87[ASN][1000 genomes]
rs4803181	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4803185	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803186	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803187	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803188	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803193	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58897626	0.88[ASN][1000 genomes]
rs60775146	0.88[ASN][1000 genomes]
rs62119538	0.89[ASN][1000 genomes]
rs628335	0.85[ASN][1000 genomes]
rs6508835	0.89[ASN][1000 genomes]
rs6508836	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6508837	0.89[ASN][1000 genomes]
rs6508838	0.92[ASN][1000 genomes]
rs6508839	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6508840	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6508841	0.92[ASN][1000 genomes]
rs6508842	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6508843	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs681496	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7247801	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7248513	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7248652	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7250110	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7250431	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7251264	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7255211	0.93[ASN][1000 genomes]
rs7256126	0.91[ASN][1000 genomes]
rs7258862	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7259064	0.87[ASN][1000 genomes]
rs7259197	0.87[ASN][1000 genomes]
rs7259473	0.81[ASN][1000 genomes]
rs7259801	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8100503	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8103187	0.88[ASN][1000 genomes]
rs8104751	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8104899	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8104990	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8105865	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8109176	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[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	nsv963126	chr19:39521120-39552490	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10426645	CTB-189B5.3	cis	Skin Sun Exposed Lower leg	GTEx
rs10426645	FBXO27	cis	Skin Sun Exposed Lower leg	GTEx
rs10426645	CTB-189B5.3	cis	Esophagus Mucosa	GTEx
rs10426645	FBXO27	cis	Esophagus Mucosa	GTEx

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39521000-39523600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr19:39521400-39523600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:39521400-39523600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:39521400-39523800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr19:39521600-39523600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr19:39521600-39523600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:39521600-39523600	Active TSS	Rectal Smooth Muscle	rectum
8	chr19:39521600-39523800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr19:39521600-39523800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr19:39521800-39523600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr19:39521800-39523600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:39521800-39523600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr19:39521800-39523800	Active TSS	Brain Anterior Caudate	brain
14	chr19:39521800-39523800	Active TSS	Brain Hippocampus Middle	brain
15	chr19:39522000-39523600	Active TSS	Brain Angular Gyrus	brain
16	chr19:39522000-39523600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr19:39522000-39523600	Active TSS	Colon Smooth Muscle	Colon
18	chr19:39522000-39523600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr19:39522000-39523800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:39522000-39523800	Enhancers	Fetal Heart	heart
21	chr19:39522200-39523600	Active TSS	Gastric	stomach
22	chr19:39522400-39523600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:39522400-39523600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
24	chr19:39522600-39523600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr19:39522600-39523600	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr19:39522800-39523800	Flanking Active TSS	A549	lung
27	chr19:39523000-39523600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr19:39523000-39523600	Flanking Active TSS	Placenta	Placenta
29	chr19:39523000-39523600	Enhancers	HUVEC	blood vessel
30	chr19:39523000-39523800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr19:39523000-39524600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:39523000-39524600	Enhancers	Liver	Liver
33	chr19:39523200-39523600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:39523200-39523600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr19:39523200-39523600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr19:39523200-39523600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:39523200-39523600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:39523200-39523600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
39	chr19:39523200-39523600	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr19:39523200-39523600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
41	chr19:39523200-39523800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:39523200-39523800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:39523200-39523800	Flanking Active TSS	K562	blood
44	chr19:39523200-39524400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr19:39523200-39524400	Enhancers	NH-A	brain
46	chr19:39523400-39523600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr19:39523400-39523600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:39523400-39523600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:39523400-39523600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:39523400-39523600	Bivalent Enhancer	Duodenum Mucosa	Duodenum

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