Variant report

Variant	rs59926102
Chromosome Location	chr4:78742363-78742364
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	chr4:78742133-78742603	MCF10A-Er-Src	breast:	n/a	n/a
2	KAP1	chr4:78741578-78742431	U2OS	brain:	n/a	n/a
3	GATA1	chr4:78741018-78742735	PBDE	blood:	n/a	n/a
4	RUNX3	chr4:78742200-78742515	GM12878	blood:	n/a	n/a
5	MAX	chr4:78741035-78742556	NB4	blood:	n/a	n/a
6	POLR2A	chr4:78740956-78742486	PBDE	blood:	n/a	n/a
7	MAFK	chr4:78742339-78742529	HepG2	liver:	n/a	n/a
8	CEBPB	chr4:78742058-78742422	A549	lung:	n/a	chr4:78742177-78742188 chr4:78742177-78742188
9	POLR2A	chr4:78739357-78742374	Hela-S3	cervix:	n/a	n/a
10	FOS	chr4:78742311-78742547	MCF10A-Er-Src	breast:	n/a	n/a
11	TBP	chr4:78741114-78742577	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr4:78739779-78742457	GM18951	blood:	n/a	n/a
13	WRNIP1	chr4:78742077-78742446	GM12878	blood:	n/a	n/a
14	POLR2A	chr4:78740972-78742689	K562	blood:	n/a	n/a
15	FOS	chr4:78742131-78742610	MCF10A-Er-Src	breast:	n/a	chr4:78742132-78742141
16	MAFK	chr4:78742034-78742723	K562	blood:	n/a	n/a
17	CHD1	chr4:78738659-78742661	IMR90	lung:	n/a	chr4:78741736-78741746 chr4:78740328-78740338
18	CEBPB	chr4:78741385-78742633	Hela-S3	cervix:	n/a	chr4:78742177-78742188 chr4:78742177-78742188 chr4:78742443-78742456 chr4:78742443-78742454
19	MYC	chr4:78741002-78742398	K562	blood:	n/a	n/a
20	MYC	chr4:78740917-78742640	K562	blood:	n/a	n/a
21	POLR2A	chr4:78740947-78742592	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:78741024-78742777	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr4:78739315-78742564	GM12892	blood:	n/a	n/a
24	ARID3A	chr4:78742087-78742370	HepG2	liver:	n/a	n/a
25	MXI1	chr4:78738881-78742701	IMR90	lung:	n/a	n/a
26	MYC	chr4:78742045-78742523	MCF10A-Er-Src	breast:	n/a	n/a
27	MAFF	chr4:78742295-78742472	HepG2	liver:	n/a	n/a
28	EP300	chr4:78742283-78742606	K562	blood:	n/a	chr4:78742444-78742458
29	RELA	chr4:78741153-78742658	GM10847	blood:	n/a	n/a
30	STAT5A	chr4:78741944-78742452	GM12878	blood:	n/a	n/a
31	MYC	chr4:78740987-78742505	NB4	blood:	n/a	n/a
32	MYC	chr4:78742047-78742570	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr4:78739313-78742683	Raji	blood:	n/a	n/a
34	STAT3	chr4:78742230-78742417	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr4:78739796-78742600	GM19099	blood:	n/a	n/a
36	POLR2A	chr4:78739283-78743152	HUVEC	blood vessel:	n/a	n/a
37	CEBPB	chr4:78742102-78742603	IMR90	lung:	n/a	chr4:78742177-78742188 chr4:78742177-78742188 chr4:78742443-78742456 chr4:78742443-78742454
38	MAFK	chr4:78742148-78742570	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr4:78742070-78742630	K562	blood:	n/a	chr4:78742177-78742188 chr4:78742177-78742188 chr4:78742443-78742456 chr4:78742443-78742454
40	RUNX3	chr4:78742231-78742529	GM12878	blood:	n/a	n/a
41	POLR2A	chr4:78739218-78742590	GM18505	blood:	n/a	n/a
42	BHLHE40	chr4:78742355-78742741	K562	blood:	n/a	n/a
43	MAFK	chr4:78742242-78742415	HepG2	liver:	n/a	n/a
44	POLR2A	chr4:78741131-78742565	GM12891	blood:	n/a	n/a
45	POLR2A	chr4:78740946-78742503	MCF10A-Er-Src	breast:	n/a	n/a
46	RCOR1	chr4:78740925-78742602	K562	blood:	n/a	n/a
47	MAFK	chr4:78742243-78742443	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr4:78742065-78742551	HepG2	liver:	n/a	chr4:78742177-78742188 chr4:78742177-78742188 chr4:78742443-78742456 chr4:78742443-78742454

No.	Distal block	Cell Line	Cell type
1	chr4:78739575..78742806-chr4:78977392..78979889,3	MCF-7	breast:
2	chr4:78740903..78742923-chr4:78749495..78752276,3	MCF-7	breast:
3	chr4:78739289..78742998-chr4:78782109..78787360,12	MCF-7	breast:
4	chr4:78738764..78744926-chr4:78780904..78785516,9	MCF-7	breast:
5	chr4:78714906..78717368-chr4:78741847..78743752,2	K562	blood:
6	chr4:78691071..78693777-chr4:78741289..78743098,2	K562	blood:
7	chr4:78734703..78743448-chr4:78779372..78785561,20	K562	blood:
8	chr4:78738995..78744410-chr4:78782336..78785612,12	K562	blood:
9	chr4:78664695..78666373-chr4:78741463..78744231,2	K562	blood:
10	chr4:78741277..78744126-chr4:78747638..78749332,2	MCF-7	breast:

Variant related genes	Relation type
CNOT6L	TF binding region
ENSG00000138759	Chromatin interaction
ENSG00000250214	Chromatin interaction
ENSG00000169288	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs57475713	1.00[AFR][1000 genomes]
rs59140464	1.00[AFR][1000 genomes]
rs59434555	1.00[AFR][1000 genomes]
rs60243365	1.00[AFR][1000 genomes]
rs72864981	1.00[AFR][1000 genomes]
rs72868204	1.00[AFR][1000 genomes]
rs72869523	1.00[AFR][1000 genomes]
rs72869526	1.00[AFR][1000 genomes]
rs72869551	1.00[AFR][1000 genomes]
rs72869567	1.00[AFR][1000 genomes]
rs72869576	1.00[AFR][1000 genomes]
rs72869581	1.00[AFR][1000 genomes]
rs72869595	1.00[AFR][1000 genomes]
rs72869597	1.00[AFR][1000 genomes]
rs72871103	1.00[AFR][1000 genomes]
rs72871112	1.00[AFR][1000 genomes]
rs72871117	1.00[AFR][1000 genomes]
rs72871118	1.00[AFR][1000 genomes]
rs72871124	1.00[AFR][1000 genomes]
rs72871133	1.00[AFR][1000 genomes]
rs72871136	1.00[AFR][1000 genomes]
rs72871138	1.00[AFR][1000 genomes]
rs72871155	1.00[AFR][1000 genomes]
rs72871157	1.00[AFR][1000 genomes]
rs72871162	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829976	chr4:78576657-78757798	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv1818157	chr4:78678104-78849088	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78737000-78742400	Active TSS	Thymus	Thymus
2	chr4:78738600-78742600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr4:78738600-78742600	Active TSS	Right Atrium	heart
4	chr4:78738800-78742400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:78738800-78742400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:78738800-78742400	Active TSS	Fetal Intestine Large	intestine
7	chr4:78738800-78742400	Active TSS	Fetal Muscle Trunk	muscle
8	chr4:78738800-78742400	Active TSS	Left Ventricle	heart
9	chr4:78738800-78742400	Active TSS	Pancreas	Pancrea
10	chr4:78738800-78742400	Active TSS	Right Ventricle	heart
11	chr4:78738800-78742800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:78739000-78742400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:78739000-78742600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:78739000-78742600	Active TSS	Esophagus	oesophagus
15	chr4:78739000-78742800	Active TSS	Aorta	Aorta
16	chr4:78739200-78742400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:78739200-78742600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:78739400-78742400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr4:78739400-78742400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr4:78739400-78742400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr4:78739400-78742400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:78740200-78742400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr4:78741600-78742600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr4:78741600-78742600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:78741600-78742800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr4:78741600-78742800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:78741600-78743200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr4:78741600-78743400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr4:78741600-78743400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:78741800-78742400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr4:78741800-78742400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr4:78741800-78742400	Flanking Active TSS	Fetal Heart	heart
33	chr4:78741800-78742400	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr4:78741800-78742400	Flanking Active TSS	NH-A	brain
35	chr4:78741800-78742800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:78741800-78742800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr4:78741800-78742800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:78741800-78742800	Flanking Active TSS	Fetal Lung	lung
39	chr4:78741800-78742800	Flanking Active TSS	HUVEC	blood vessel
40	chr4:78741800-78742800	Flanking Active TSS	NHEK	skin
41	chr4:78741800-78743200	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr4:78741800-78743400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr4:78742000-78742400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:78742000-78742400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:78742000-78742400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr4:78742000-78742400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr4:78742000-78742400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr4:78742000-78742400	Flanking Active TSS	Fetal Brain Male	brain
49	chr4:78742000-78742400	Flanking Active TSS	Placenta	Placenta
50	chr4:78742000-78742400	Flanking Active TSS	Fetal Stomach	stomach

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