Variant report

Variant	rs72627043
Chromosome Location	chr3:23907366-23907367
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	NFIC	chr3:23906904-23907542	GM12878	blood:	n/a	n/a
2	TCF3	chr3:23907234-23907402	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:23907315-23908088	H1-hESC	embryonic stem cell:	n/a	n/a
4	EP300	chr3:23907207-23907423	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:23907135-23907549	GM12892	blood:	n/a	n/a
6	CHD1	chr3:23907214-23907576	GM12878	blood:	n/a	n/a
7	RUNX3	chr3:23907012-23907952	GM12878	blood:	n/a	n/a
8	EP300	chr3:23907118-23908094	GM12878	blood:	n/a	n/a
9	EBF1	chr3:23907060-23907691	GM12878	blood:	n/a	n/a
10	RUNX3	chr3:23907040-23907958	GM12878	blood:	n/a	n/a
11	SMC3	chr3:23907159-23907838	GM12878	blood:	n/a	chr3:23907311-23907318
12	ATF2	chr3:23906991-23907931	GM12878	blood:	n/a	n/a
13	BCL11A	chr3:23907057-23907540	GM12878	blood:	n/a	n/a
14	BATF	chr3:23907081-23907465	GM12878	blood:	n/a	chr3:23907207-23907216
15	BCLAF1	chr3:23906920-23907829	GM12878	blood:	n/a	n/a
16	TCF12	chr3:23907253-23908002	A549	lung:	n/a	n/a
17	NR2F2	chr3:23907282-23907975	MCF-7	breast:	n/a	n/a
18	ZNF143	chr3:23907179-23907366	GM12878	blood:	n/a	n/a
19	POLR2A	chr3:23906546-23907983	GM12878	blood:	n/a	n/a
20	PML	chr3:23907000-23907662	GM12878	blood:	n/a	n/a
21	PAX5	chr3:23907013-23907577	GM12878	blood:	n/a	n/a
22	NFATC1	chr3:23906995-23907698	GM12878	blood:	n/a	n/a
23	ATF2	chr3:23907071-23907838	GM12878	blood:	n/a	n/a
24	POLR2A	chr3:23907023-23907990	GM12892	blood:	n/a	n/a
25	IRF4	chr3:23906989-23907583	GM12878	blood:	n/a	n/a
26	POLR2A	chr3:23907161-23907856	GM12878	blood:	n/a	n/a
27	FOXA2	chr3:23907233-23907898	A549	lung:	n/a	n/a
28	BHLHE40	chr3:23907108-23907737	GM12878	blood:	n/a	n/a
29	BCL11A	chr3:23907143-23907532	GM12878	blood:	n/a	n/a
30	POLR2A	chr3:23907298-23907907	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr3:23907213-23907844	GM12892	blood:	n/a	n/a
32	NFIC	chr3:23907028-23907609	GM12878	blood:	n/a	n/a
33	YY1	chr3:23907205-23907482	GM12878	blood:	n/a	n/a
34	POLR2A	chr3:23906906-23907994	GM12892	blood:	n/a	n/a
35	SP1	chr3:23907077-23907562	GM12878	blood:	n/a	n/a
36	SP1	chr3:23907096-23907518	GM12878	blood:	n/a	n/a
37	TCF12	chr3:23907186-23907383	GM12878	blood:	n/a	n/a
38	EP300	chr3:23907126-23907743	GM12878	blood:	n/a	n/a
39	POU2F2	chr3:23907044-23907947	GM12891	blood:	n/a	chr3:23907606-23907613 chr3:23907605-23907615 chr3:23907602-23907617 chr3:23907605-23907615 chr3:23907604-23907614 chr3:23907605-23907613 chr3:23907598-23907620 chr3:23907605-23907614 chr3:23907600-23907618
40	EBF1	chr3:23907139-23907593	GM12878	blood:	n/a	n/a
41	IRF4	chr3:23907017-23907530	GM12878	blood:	n/a	n/a
42	KAP1	chr3:23907343-23908114	HEK293	kidney:	n/a	n/a
43	NFYB	chr3:23907126-23907715	GM12878	blood:	n/a	n/a
44	WRNIP1	chr3:23907068-23907948	GM12878	blood:	n/a	n/a
45	POU2F2	chr3:23907116-23907783	GM12878	blood:	n/a	chr3:23907606-23907613 chr3:23907605-23907615 chr3:23907602-23907617 chr3:23907605-23907615 chr3:23907604-23907614 chr3:23907605-23907613 chr3:23907598-23907620 chr3:23907605-23907614 chr3:23907600-23907618
46	FOXM1	chr3:23907019-23907515	GM12878	blood:	n/a	n/a
47	STAT1	chr3:23907303-23907541	GM12878	blood:	n/a	n/a
48	POU2F2	chr3:23906948-23907858	GM12878	blood:	n/a	chr3:23907606-23907613 chr3:23907605-23907615 chr3:23907602-23907617 chr3:23907605-23907615 chr3:23907604-23907614 chr3:23907605-23907613 chr3:23907598-23907620 chr3:23907605-23907614 chr3:23907600-23907618
49	FOXA2	chr3:23907355-23907930	A549	lung:	n/a	n/a
50	GATA2	chr3:23907366-23907940	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
UBE2E1	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs13317815	0.80[ASN][1000 genomes]
rs13321439	0.80[ASN][1000 genomes]
rs13321440	0.80[ASN][1000 genomes]
rs2360020	0.93[ASN][1000 genomes]
rs34593533	0.80[ASN][1000 genomes]
rs35457462	0.84[ASN][1000 genomes]
rs4132595	0.87[ASN][1000 genomes]
rs6770052	0.80[ASN][1000 genomes]
rs6778577	0.80[ASN][1000 genomes]
rs6803587	0.80[ASN][1000 genomes]
rs72627025	0.87[ASN][1000 genomes]
rs72627026	0.87[ASN][1000 genomes]
rs72627027	0.87[ASN][1000 genomes]
rs72627028	1.00[ASN][1000 genomes]
rs72627029	1.00[ASN][1000 genomes]
rs72627030	1.00[ASN][1000 genomes]
rs72627031	1.00[ASN][1000 genomes]
rs72627032	1.00[ASN][1000 genomes]
rs72627033	1.00[ASN][1000 genomes]
rs72627034	1.00[ASN][1000 genomes]
rs72627035	1.00[ASN][1000 genomes]
rs72627036	1.00[ASN][1000 genomes]
rs72627037	1.00[ASN][1000 genomes]
rs72627038	1.00[ASN][1000 genomes]
rs72627039	1.00[ASN][1000 genomes]
rs72627040	1.00[ASN][1000 genomes]
rs72627041	0.87[ASN][1000 genomes]
rs72627042	0.96[ASN][1000 genomes]
rs72627044	0.93[ASN][1000 genomes]
rs72627046	0.93[ASN][1000 genomes]
rs72627047	0.90[ASN][1000 genomes]
rs72627048	0.90[ASN][1000 genomes]
rs72627049	0.90[ASN][1000 genomes]
rs72627050	0.90[ASN][1000 genomes]
rs72627051	0.93[ASN][1000 genomes]
rs72627052	0.93[ASN][1000 genomes]
rs72627053	0.93[ASN][1000 genomes]
rs72627055	0.93[ASN][1000 genomes]
rs72627056	0.93[ASN][1000 genomes]
rs72627057	0.93[ASN][1000 genomes]
rs72627058	0.93[ASN][1000 genomes]
rs72627059	0.93[ASN][1000 genomes]
rs72627060	0.93[ASN][1000 genomes]
rs72627061	0.93[ASN][1000 genomes]
rs72627062	0.93[ASN][1000 genomes]
rs72627063	0.93[ASN][1000 genomes]
rs72627064	0.93[ASN][1000 genomes]
rs72627065	0.93[ASN][1000 genomes]
rs72627067	0.93[ASN][1000 genomes]
rs72627068	0.93[ASN][1000 genomes]
rs72627069	0.93[ASN][1000 genomes]
rs72627070	0.93[ASN][1000 genomes]
rs72627071	0.93[ASN][1000 genomes]
rs72627072	0.93[ASN][1000 genomes]
rs72627073	0.93[ASN][1000 genomes]
rs72627074	0.93[ASN][1000 genomes]
rs72627075	0.93[ASN][1000 genomes]
rs72627076	0.93[ASN][1000 genomes]
rs72627078	0.86[ASN][1000 genomes]
rs72627079	0.93[ASN][1000 genomes]
rs72627080	0.93[ASN][1000 genomes]
rs72627081	0.93[ASN][1000 genomes]
rs72627082	0.93[ASN][1000 genomes]
rs72627083	0.93[ASN][1000 genomes]
rs72627084	0.93[ASN][1000 genomes]
rs72627085	0.93[ASN][1000 genomes]
rs72627086	0.93[ASN][1000 genomes]
rs72627087	0.93[ASN][1000 genomes]
rs72627088	0.93[ASN][1000 genomes]
rs72627089	0.93[ASN][1000 genomes]
rs72627090	0.93[ASN][1000 genomes]
rs72627091	0.90[ASN][1000 genomes]
rs72627096	0.83[ASN][1000 genomes]
rs72627097	0.83[ASN][1000 genomes]
rs72627098	0.83[ASN][1000 genomes]
rs72627099	0.83[ASN][1000 genomes]
rs9817923	0.80[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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23879000-23907400	Weak transcription	K562	blood
2	chr3:23901000-23907400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:23901200-23907400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:23901200-23914800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:23901200-23915400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:23901200-23915400	Weak transcription	HSMM	muscle
7	chr3:23901200-23942000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:23901400-23915200	Weak transcription	NHEK	skin
9	chr3:23901800-23907400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:23901800-23928800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr3:23901800-23935600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:23903400-23929400	Weak transcription	Dnd41	blood
13	chr3:23903600-23907400	Enhancers	HUVEC	blood vessel
14	chr3:23903600-23908200	Enhancers	Hela-S3	cervix
15	chr3:23903800-23907600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:23904000-23918200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr3:23904200-23908200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr3:23904800-23930800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:23905200-23909600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:23905400-23907800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:23905400-23909600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:23905400-23909600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:23905600-23908000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:23905600-23908200	Enhancers	Liver	Liver
25	chr3:23905600-23908200	Enhancers	Brain Hippocampus Middle	brain
26	chr3:23905600-23908400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:23905600-23908400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr3:23905600-23909200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr3:23905600-23909200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr3:23905800-23909200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr3:23906000-23908200	Enhancers	HepG2	liver
32	chr3:23906000-23908200	Enhancers	NHLF	lung
33	chr3:23906200-23907600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:23906200-23907600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:23906200-23907800	Enhancers	Fetal Muscle Trunk	muscle
36	chr3:23906200-23908000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr3:23906200-23908000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:23906200-23908000	Genic enhancers	Fetal Intestine Small	intestine
39	chr3:23906200-23908000	Enhancers	Fetal Muscle Leg	muscle
40	chr3:23906200-23908000	Enhancers	Left Ventricle	heart
41	chr3:23906200-23908000	Enhancers	Ovary	ovary
42	chr3:23906200-23908000	Enhancers	Right Atrium	heart
43	chr3:23906200-23908200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:23906200-23908400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:23906200-23908400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr3:23906200-23908400	Enhancers	Fetal Lung	lung
47	chr3:23906200-23908400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr3:23906200-23908600	Enhancers	Brain Anterior Caudate	brain
49	chr3:23906200-23909400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr3:23906400-23908000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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