Variant report

Variant	rs4075927
Chromosome Location	chr4:79575058-79575059
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	chr4:79574896-79575151	K562	blood:	n/a	n/a
2	USF1	chr4:79574740-79575292	ECC-1	luminal epithelium:	n/a	chr4:79575023-79575034
3	USF1	chr4:79574677-79575215	K562	blood:	n/a	chr4:79575023-79575034
4	GATA3	chr4:79574676-79575298	SK-N-SH	brain:	n/a	n/a
5	USF1	chr4:79574824-79575195	A549	lung:	n/a	chr4:79575023-79575034
6	SIX5	chr4:79574872-79575138	K562	blood:	n/a	n/a
7	SIX5	chr4:79574855-79575172	K562	blood:	n/a	n/a
8	ZNF143	chr4:79574740-79575285	K562	blood:	n/a	n/a
9	MYC	chr4:79574863-79575227	K562	blood:	n/a	n/a
10	CEBPB	chr4:79574921-79575305	K562	blood:	n/a	n/a
11	GATA3	chr4:79574761-79575261	SH-SY5Y	brain:	n/a	n/a
12	SIX5	chr4:79574916-79575233	H1-hESC	embryonic stem cell:	n/a	n/a
13	FOS	chr4:79574920-79575207	MCF10A-Er-Src	breast:	n/a	n/a
14	USF1	chr4:79574858-79575295	HCT-116	colon:	n/a	chr4:79575023-79575034
15	SIX5	chr4:79574869-79575189	A549	lung:	n/a	n/a
16	USF1	chr4:79574901-79575109	HepG2	liver:	n/a	chr4:79575023-79575034
17	FOS	chr4:79574886-79575196	MCF10A-Er-Src	breast:	n/a	n/a
18	SIX5	chr4:79574817-79575155	K562	blood:	n/a	n/a
19	MAX	chr4:79574875-79575216	K562	blood:	n/a	n/a
20	USF1	chr4:79574735-79575304	HCT-116	colon:	n/a	chr4:79575023-79575034
21	USF1	chr4:79574699-79575375	SK-N-SH	brain:	n/a	chr4:79575023-79575034
22	USF2	chr4:79574853-79575216	K562	blood:	n/a	n/a
23	CEBPD	chr4:79574804-79575308	K562	blood:	n/a	n/a
24	USF1	chr4:79574757-79575163	SK-N-SH_RA	brain:	n/a	chr4:79575023-79575034
25	HCFC1	chr4:79574747-79575259	K562	blood:	n/a	n/a
26	USF1	chr4:79574626-79575273	H1-hESC	embryonic stem cell:	n/a	chr4:79575023-79575034
27	EP300	chr4:79574460-79576528	SK-N-SH	brain:	n/a	n/a
28	MYC	chr4:79574953-79575129	NB4	blood:	n/a	n/a
29	ARID3A	chr4:79574866-79575195	K562	blood:	n/a	n/a
30	SIX5	chr4:79574878-79575154	K562	blood:	n/a	n/a
31	JUN	chr4:79574834-79575144	K562	blood:	n/a	n/a
32	USF1	chr4:79574882-79575100	HepG2	liver:	n/a	chr4:79575023-79575034
33	ZNF143	chr4:79574951-79575151	GM12878	blood:	n/a	n/a
34	EP300	chr4:79574653-79575106	SK-N-SH_RA	brain:	n/a	n/a
35	BHLHE40	chr4:79574862-79575187	K562	blood:	n/a	n/a
36	USF1	chr4:79574691-79575243	K562	blood:	n/a	chr4:79575023-79575034
37	JUND	chr4:79574895-79575163	K562	blood:	n/a	n/a
38	USF1	chr4:79574810-79575173	SK-N-SH_RA	brain:	n/a	chr4:79575023-79575034
39	MAX	chr4:79574829-79575198	H1-hESC	embryonic stem cell:	n/a	n/a
40	EP300	chr4:79574663-79575124	SK-N-SH_RA	brain:	n/a	n/a
41	TAL1	chr4:79575019-79575081	K562	blood:	n/a	n/a
42	MAX	chr4:79574849-79575198	K562	blood:	n/a	n/a
43	MAX	chr4:79574870-79575186	NB4	blood:	n/a	n/a
44	USF1	chr4:79574738-79575266	A549	lung:	n/a	chr4:79575023-79575034
45	USF1	chr4:79574785-79575199	A549	lung:	n/a	chr4:79575023-79575034
46	USF1	chr4:79574743-79575208	H1-hESC	embryonic stem cell:	n/a	chr4:79575023-79575034
47	USF1	chr4:79574830-79575147	A549	lung:	n/a	chr4:79575023-79575034
48	USF1	chr4:79574675-79575293	SK-N-SH	brain:	n/a	chr4:79575023-79575034
49	USF1	chr4:79574771-79575170	A549	lung:	n/a	chr4:79575023-79575034
50	CEBPB	chr4:79574872-79575264	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:79536352..79538431-chr4:79574021..79576567,2	K562	blood:
2	chr4:79569060..79573102-chr4:79573355..79577371,7	K562	blood:
3	chr4:79574980..79576539-chr4:79577266..79578943,2	K562	blood:
4	chr4:79564649..79566835-chr4:79572826..79575093,2	K562	blood:
5	chr4:79571726..79575122-chr4:79694078..79695730,3	K562	blood:
6	chr4:79573524..79575616-chr4:79695748..79697732,2	MCF-7	breast:
7	chr4:79573896..79576451-chr4:79609109..79611530,2	K562	blood:
8	chr4:79573461..79577118-chr4:79700688..79703892,3	K562	blood:
9	chr4:79573609..79576927-chr4:79583175..79586831,3	MCF-7	breast:

Variant related genes	Relation type
HIGD1AP13	TF binding region
ENSG00000260278	Chromatin interaction
ENSG00000138756	Chromatin interaction
ENSG00000251019	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10007186	0.95[EUR][1000 genomes]
rs10019240	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212636	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1107606	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1108907	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11724268	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724602	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11728013	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731482	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733032	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11736376	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11736602	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11942573	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233694	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233707	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643488	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12646646	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12650411	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12711032	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120630	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138005	0.87[EUR][1000 genomes]
rs1834518	0.81[EUR][1000 genomes]
rs1972024	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28597797	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34325799	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4073678	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074673	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074674	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077709	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4270605	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4306980	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4353930	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4632683	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4643844	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975148	0.89[EUR][1000 genomes]
rs6533825	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6533835	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533842	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533845	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6811335	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6812227	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812441	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814739	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819484	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824014	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6829061	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6829198	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6834587	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6835210	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835998	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6836513	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838443	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840592	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845893	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846346	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6851341	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854055	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7317	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7657082	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7669674	0.87[AMR][1000 genomes]
rs7669866	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7670506	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7680749	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7680766	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7682984	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7689154	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7697461	0.80[EUR][1000 genomes]
rs9998136	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3367706	chr4:79574895-79575447	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79551400-79578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:79564400-79577200	Weak transcription	Fetal Thymus	thymus
3	chr4:79564400-79589600	Weak transcription	Lung	lung
4	chr4:79567800-79578200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:79567800-79580400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:79567800-79583400	Weak transcription	Psoas Muscle	Psoas
7	chr4:79568000-79575600	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:79568000-79578000	Enhancers	HUVEC	blood vessel
9	chr4:79568000-79582800	Weak transcription	Right Atrium	heart
10	chr4:79569600-79575400	Enhancers	NHDF-Ad	bronchial
11	chr4:79571000-79576400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:79571000-79576600	Enhancers	Osteobl	bone
13	chr4:79571800-79575400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:79571800-79578200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:79572000-79575600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:79572000-79576600	Weak transcription	Spleen	Spleen
17	chr4:79572200-79578000	Enhancers	K562	blood
18	chr4:79572800-79575800	Weak transcription	Primary B cells from cord blood	blood
19	chr4:79572800-79576000	Enhancers	Brain Hippocampus Middle	brain
20	chr4:79572800-79582800	Weak transcription	Hela-S3	cervix
21	chr4:79573000-79576000	Enhancers	Brain Cingulate Gyrus	brain
22	chr4:79573000-79576600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr4:79573000-79579000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:79573400-79578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:79573400-79578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:79573600-79578000	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:79573800-79575200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr4:79573800-79575400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:79573800-79575400	Weak transcription	Fetal Stomach	stomach
30	chr4:79573800-79576200	Enhancers	Brain Substantia Nigra	brain
31	chr4:79573800-79577400	Weak transcription	Dnd41	blood
32	chr4:79573800-79578200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:79573800-79578800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr4:79573800-79579000	Weak transcription	HSMM	muscle
35	chr4:79573800-79579000	Weak transcription	NHEK	skin
36	chr4:79573800-79583200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:79573800-79583600	Weak transcription	Colon Smooth Muscle	Colon
38	chr4:79573800-79584200	Weak transcription	Left Ventricle	heart
39	chr4:79573800-79587000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:79574000-79575600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:79574000-79581800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr4:79574000-79582400	Weak transcription	Fetal Heart	heart
43	chr4:79574200-79575400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:79574200-79575400	Weak transcription	Adipose Nuclei	Adipose
45	chr4:79574200-79575400	Weak transcription	Fetal Lung	lung
46	chr4:79574200-79575600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:79574200-79580400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:79574200-79583000	Weak transcription	HSMMtube	muscle
49	chr4:79574400-79575800	Enhancers	Brain Anterior Caudate	brain
50	chr4:79574400-79579000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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