Variant report

Variant	rs73243105
Chromosome Location	chr4:15661355-15661356
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	STAT3	chr4:15661165-15662108	MCF10A-Er-Src	breast:	n/a	chr4:15661687-15661695 chr4:15662051-15662059
2	FOS	chr4:15661328-15661788	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr4:15661060-15662039	MCF10A-Er-Src	breast:	n/a	chr4:15661081-15661095 chr4:15661687-15661695 chr4:15661084-15661092
4	EP300	chr4:15661267-15661752	K562	blood:	n/a	chr4:15661671-15661685 chr4:15661598-15661612 chr4:15661644-15661658
5	POLR2A	chr4:15661303-15662033	HL-60	blood:	n/a	n/a
6	CEBPB	chr4:15661266-15661767	A549	lung:	n/a	chr4:15661287-15661298 chr4:15661287-15661298 chr4:15661601-15661612
7	GABPA	chr4:15661069-15661942	HL-60	blood:	n/a	n/a
8	POLR2A	chr4:15660692-15661841	K562	blood:	n/a	n/a
9	POLR2A	chr4:15661303-15661859	U87	brain:	n/a	n/a
10	SPI1	chr4:15661298-15661886	HL-60	blood:	n/a	n/a
11	POLR2A	chr4:15661028-15661819	MCF10A-Er-Src	breast:	n/a	n/a
12	CEBPB	chr4:15661276-15661788	HepG2	liver:	n/a	chr4:15661287-15661298 chr4:15661287-15661298 chr4:15661601-15661612
13	STAT3	chr4:15661160-15661797	MCF10A-Er-Src	breast:	n/a	chr4:15661687-15661695
14	POLR2A	chr4:15661283-15661908	HL-60	blood:	n/a	n/a
15	CEBPB	chr4:15661258-15661805	MCF-7	breast:	n/a	chr4:15661287-15661298 chr4:15661287-15661298 chr4:15661601-15661612
16	TBP	chr4:15661316-15661674	Hela-S3	cervix:	n/a	n/a
17	FOS	chr4:15661341-15661779	MCF10A-Er-Src	breast:	n/a	n/a
18	MAX	chr4:15661337-15661783	NB4	blood:	n/a	chr4:15661454-15661464
19	STAT3	chr4:15660970-15661827	MCF10A-Er-Src	breast:	n/a	chr4:15661081-15661095 chr4:15661687-15661695 chr4:15661084-15661092
20	POLR2A	chr4:15661347-15661741	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr4:15661335-15661786	Hela-S3	cervix:	n/a	chr4:15661671-15661685 chr4:15661598-15661612 chr4:15661644-15661658
22	FOS	chr4:15661270-15661797	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr4:15661268-15661775	MCF10A-Er-Src	breast:	n/a	n/a
24	CEBPB	chr4:15661203-15661825	Hela-S3	cervix:	n/a	chr4:15661287-15661298 chr4:15661287-15661298 chr4:15661601-15661612
25	CEBPB	chr4:15661323-15661812	IMR90	lung:	n/a	chr4:15661601-15661612
26	MYC	chr4:15661182-15662088	MCF10A-Er-Src	breast:	n/a	chr4:15661454-15661464
27	MYC	chr4:15661307-15661669	K562	blood:	n/a	chr4:15661454-15661464

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15654775..15659231-chr4:15659761..15666940,9	K562	blood:
2	chr4:15652688..15657004-chr4:15659488..15663550,8	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXL5-5	chr4:15661354-15661545	NONHSAT095626

Variant related genes	Relation type
FBXL5	TF binding region
ENSG00000118564	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16892232	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17385861	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17385951	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17405797	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17476879	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302465	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2302469	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3756245	0.81[EUR][1000 genomes]
rs3822258	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4279202	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55735476	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55757331	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs55784324	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55803452	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55963737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56065468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56093715	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56094420	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56149419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56166932	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224650	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73224656	0.85[EUR][1000 genomes]
rs73224663	1.00[AFR][1000 genomes]
rs73237171	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237172	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237182	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237198	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239165	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239167	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239174	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239175	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239182	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239189	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239191	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239193	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241109	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241111	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241112	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241117	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241120	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243118	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243132	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243135	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7683000	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv518830	chr4:15610771-15672200	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv521183	chr4:15610771-15692136	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15657200-15662200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr4:15657600-15681400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:15657800-15661400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:15657800-15666800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:15657800-15667800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:15658000-15661400	Weak transcription	Placenta	Placenta
7	chr4:15658000-15664600	Weak transcription	Esophagus	oesophagus
8	chr4:15658000-15665400	Weak transcription	Psoas Muscle	Psoas
9	chr4:15658000-15666800	Weak transcription	Thymus	Thymus
10	chr4:15658000-15667400	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:15658000-15667800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:15658000-15672200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:15658000-15673800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:15658000-15675200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:15658000-15679000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:15658000-15681400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:15658200-15661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:15658200-15661800	Active TSS	Primary B cells from cord blood	blood
19	chr4:15658200-15665000	Weak transcription	GM12878-XiMat	blood
20	chr4:15658200-15666600	Weak transcription	HUVEC	blood vessel
21	chr4:15658200-15666800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:15658200-15667200	Weak transcription	Fetal Thymus	thymus
23	chr4:15658200-15667400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:15658200-15667400	Weak transcription	NH-A	brain
25	chr4:15658200-15667800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:15658200-15667800	Weak transcription	NHLF	lung
27	chr4:15658200-15668000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:15658200-15670600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:15658200-15679200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:15658200-15679200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:15658200-15682200	Weak transcription	Fetal Stomach	stomach
32	chr4:15658400-15661400	Active TSS	Primary hematopoietic stem cells	blood
33	chr4:15658400-15661400	Weak transcription	NHEK	skin
34	chr4:15658400-15662600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr4:15658400-15667000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr4:15658400-15667400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:15658400-15668400	Weak transcription	Dnd41	blood
38	chr4:15658400-15668600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:15658600-15673000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:15658600-15679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:15659400-15661600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:15659600-15668200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr4:15659800-15678600	Weak transcription	K562	blood
44	chr4:15660000-15667400	Weak transcription	HSMMtube	muscle
45	chr4:15660000-15667400	Weak transcription	NHDF-Ad	bronchial
46	chr4:15660000-15668600	Weak transcription	HepG2	liver
47	chr4:15660200-15662000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:15660200-15665800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:15660200-15670600	Weak transcription	Fetal Lung	lung
50	chr4:15660400-15661400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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