Variant report

Variant	rs73853811
Chromosome Location	chr4:144273367-144273368
allele	C/T
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	KAP1	chr4:144273305-144273571	U2OS	brain:	n/a	chr4:144273320-144273329
2	FOS	chr4:144273141-144273519	MCF10A-Er-Src	breast:	n/a	chr4:144273319-144273327 chr4:144273320-144273327 chr4:144273317-144273329 chr4:144273319-144273327 chr4:144273317-144273328 chr4:144273318-144273328
3	FOXA1	chr4:144273179-144273608	ECC-1	luminal epithelium:	n/a	chr4:144273389-144273404
4	EP300	chr4:144272973-144273774	ECC-1	luminal epithelium:	n/a	chr4:144273318-144273327 chr4:144273649-144273656 chr4:144273394-144273404 chr4:144273098-144273105
5	FOS	chr4:144273172-144273498	MCF10A-Er-Src	breast:	n/a	chr4:144273319-144273327 chr4:144273320-144273327 chr4:144273317-144273329 chr4:144273319-144273327 chr4:144273317-144273328 chr4:144273318-144273328
6	STAT3	chr4:144273197-144273545	MCF10A-Er-Src	breast:	n/a	n/a
7	TCF12	chr4:144273219-144273655	ECC-1	luminal epithelium:	n/a	n/a
8	FOS	chr4:144273138-144273533	MCF10A-Er-Src	breast:	n/a	chr4:144273319-144273327 chr4:144273320-144273327 chr4:144273317-144273329 chr4:144273319-144273327 chr4:144273317-144273328 chr4:144273318-144273328
9	EP300	chr4:144273217-144273580	SK-N-SH_RA	brain:	n/a	chr4:144273318-144273327 chr4:144273394-144273404
10	MAFK	chr4:144273214-144273491	K562	blood:	n/a	chr4:144273317-144273327 chr4:144273317-144273326
11	BACH1	chr4:144273179-144273375	K562	blood:	n/a	n/a
12	FOXA1	chr4:144273229-144273634	T-47D	breast:	n/a	chr4:144273389-144273404
13	MAFF	chr4:144273186-144273614	K562	blood:	n/a	chr4:144273476-144273494
14	EP300	chr4:144272675-144273908	SK-N-SH	brain:	n/a	chr4:144273318-144273327 chr4:144273888-144273902 chr4:144273649-144273656 chr4:144273394-144273404 chr4:144273098-144273105
15	MAFF	chr4:144273345-144273583	HepG2	liver:	n/a	chr4:144273476-144273494
16	FOXA1	chr4:144273239-144273563	ECC-1	luminal epithelium:	n/a	chr4:144273389-144273404
17	PBX3	chr4:144273173-144273575	SK-N-SH	brain:	n/a	n/a
18	NFIC	chr4:144273012-144273734	ECC-1	luminal epithelium:	n/a	n/a
19	FOS	chr4:144273114-144273527	HUVEC	blood vessel:	n/a	chr4:144273319-144273327 chr4:144273320-144273327 chr4:144273317-144273329 chr4:144273319-144273327 chr4:144273317-144273328 chr4:144273318-144273328
20	MYC	chr4:144273219-144273470	MCF10A-Er-Src	breast:	n/a	chr4:144273318-144273327
21	MAFK	chr4:144273317-144273594	HepG2	liver:	n/a	chr4:144273480-144273494 chr4:144273488-144273499 chr4:144273317-144273327 chr4:144273317-144273326
22	STAT3	chr4:144273278-144273527	MCF10A-Er-Src	breast:	n/a	n/a
23	TCF12	chr4:144273075-144273773	ECC-1	luminal epithelium:	n/a	n/a
24	FOXA2	chr4:144273250-144273496	A549	lung:	n/a	n/a
25	EP300	chr4:144273246-144273572	SK-N-SH_RA	brain:	n/a	chr4:144273318-144273327 chr4:144273394-144273404
26	FOS	chr4:144273201-144273547	MCF10A-Er-Src	breast:	n/a	chr4:144273319-144273327 chr4:144273320-144273327 chr4:144273317-144273329 chr4:144273319-144273327 chr4:144273317-144273328 chr4:144273318-144273328
27	MAFK	chr4:144273241-144273611	IMR90	lung:	n/a	chr4:144273480-144273494 chr4:144273488-144273499 chr4:144273317-144273327 chr4:144273317-144273326
28	TCF12	chr4:144273062-144273712	SK-N-SH	brain:	n/a	n/a
29	JUN	chr4:144273160-144273501	HUVEC	blood vessel:	n/a	chr4:144273319-144273327 chr4:144273320-144273327 chr4:144273317-144273329 chr4:144273319-144273327 chr4:144273318-144273328
30	GATA3	chr4:144273241-144273641	T-47D	breast:	n/a	n/a
31	FOXA1	chr4:144273250-144273566	T-47D	breast:	n/a	chr4:144273389-144273404
32	NFIC	chr4:144273006-144273641	ECC-1	luminal epithelium:	n/a	n/a
33	TCF7L2	chr4:144273054-144273505	HEK293	kidney:	n/a	chr4:144273177-144273186 chr4:144273175-144273189 chr4:144273178-144273188 chr4:144273174-144273190 chr4:144273174-144273190

No.	Distal block	Cell Line	Cell type
1	chr4:144268435..144271097-chr4:144272609..144275318,3	K562	blood:
2	chr4:144255276..144259485-chr4:144272162..144275884,5	MCF-7	breast:
3	chr4:144255601..144258477-chr4:144273085..144276456,3	MCF-7	breast:
4	chr4:144262793..144271335-chr4:144272377..144280163,14	K562	blood:
5	chr4:144105532..144107312-chr4:144271811..144274361,2	K562	blood:
6	chr4:144267296..144268822-chr4:144271997..144274488,2	MCF-7	breast:
7	chr4:144268908..144271285-chr4:144271515..144274137,2	MCF-7	breast:
8	chr4:144272183..144275049-chr4:144275578..144277182,2	MCF-7	breast:
9	chr4:144272912..144279199-chr4:144279482..144284125,11	K562	blood:

Variant related genes	Relation type
ENSG00000228981	TF binding region
ENSG00000178972	Chromatin interaction
ENSG00000228981	Chromatin interaction
ENSG00000170185	Chromatin interaction
ENSG00000250326	Chromatin interaction
ENSG00000109458	Chromatin interaction
ENSG00000265623	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10519681	1.00[AMR][1000 genomes]
rs1866757	1.00[AMR][1000 genomes]
rs28925883	1.00[AMR][1000 genomes]
rs28989205	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28989218	1.00[AMR][1000 genomes]
rs28989233	1.00[AMR][1000 genomes]
rs55683567	1.00[AMR][1000 genomes]
rs55789823	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55872942	1.00[AMR][1000 genomes]
rs56372904	1.00[AMR][1000 genomes]
rs57024421	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57336725	1.00[AMR][1000 genomes]
rs57368559	1.00[AMR][1000 genomes]
rs57674712	1.00[AMR][1000 genomes]
rs57743690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60891033	1.00[AMR][1000 genomes]
rs61193096	1.00[AMR][1000 genomes]
rs61288732	1.00[AMR][1000 genomes]
rs61681472	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850695	1.00[AMR][1000 genomes]
rs73850696	1.00[AMR][1000 genomes]
rs73850702	1.00[AMR][1000 genomes]
rs73853806	1.00[AMR][1000 genomes]
rs73853807	1.00[AMR][1000 genomes]
rs73853808	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853810	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853812	1.00[AMR][1000 genomes]
rs73853814	1.00[AMR][1000 genomes]
rs73853816	1.00[AMR][1000 genomes]
rs73853818	1.00[AMR][1000 genomes]
rs73853824	1.00[AMR][1000 genomes]
rs73853832	1.00[AMR][1000 genomes]
rs73853834	1.00[AMR][1000 genomes]
rs7696614	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1026110	chr4:144239825-144292148	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144259600-144276200	Weak transcription	Fetal Kidney	kidney
2	chr4:144263000-144276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:144263000-144277800	Weak transcription	Fetal Thymus	thymus
4	chr4:144264000-144276400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:144265600-144276400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:144265800-144276400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:144268600-144273800	Enhancers	Placenta	Placenta
8	chr4:144269800-144276400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:144270000-144275000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:144270000-144275200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:144270000-144277600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:144270200-144275200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:144271400-144273600	Enhancers	Pancreas	Pancrea
14	chr4:144271400-144273800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr4:144271400-144275600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr4:144272000-144273600	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr4:144272000-144273800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:144272000-144273800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr4:144272000-144274200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:144272000-144274800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr4:144272000-144275000	Enhancers	Brain Angular Gyrus	brain
22	chr4:144272000-144279200	Enhancers	Brain Anterior Caudate	brain
23	chr4:144272000-144281400	Enhancers	Brain Substantia Nigra	brain
24	chr4:144272200-144273600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:144272200-144274200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:144272200-144274200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:144272200-144274200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:144272200-144274400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr4:144272200-144274400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:144272200-144274400	Enhancers	Brain Germinal Matrix	brain
31	chr4:144272400-144273800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:144272400-144274000	Enhancers	Ovary	ovary
33	chr4:144272400-144274200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr4:144272400-144274400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr4:144272400-144274400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:144272400-144275400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr4:144272400-144275400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr4:144272400-144276600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr4:144272400-144279200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:144272600-144273600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:144272600-144273600	Enhancers	Fetal Muscle Leg	muscle
42	chr4:144272600-144273600	Flanking Active TSS	Right Ventricle	heart
43	chr4:144272600-144273800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:144272600-144273800	Enhancers	Adipose Nuclei	Adipose
45	chr4:144272600-144273800	Enhancers	Psoas Muscle	Psoas
46	chr4:144272600-144273800	Enhancers	Stomach Smooth Muscle	stomach
47	chr4:144272600-144274400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr4:144272600-144274400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:144272600-144274400	Enhancers	HUVEC	blood vessel
50	chr4:144272600-144274600	Flanking Active TSS	Fetal Heart	heart

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