Variant report

Variant	rs531489477
Chromosome Location	chr4:57396454-57396455
allele	A/C
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	MXI1	chr4:57396437-57396637	HepG2	liver:	n/a	chr4:57396571-57396586
2	MYC	chr4:57396447-57397331	K562	blood:	n/a	n/a
3	IRF1	chr4:57396443-57397141	K562	blood:	n/a	n/a
4	GTF2F1	chr4:57396429-57396522	K562	blood:	n/a	n/a
5	POLR2A	chr4:57396363-57397572	K562	blood:	n/a	n/a
6	TBP	chr4:57396341-57397523	K562	blood:	n/a	n/a
7	GATA2	chr4:57396207-57397397	SH-SY5Y	brain:	n/a	chr4:57396301-57396314 chr4:57396498-57396511
8	RCOR1	chr4:57396302-57397241	K562	blood:	n/a	n/a
9	MAZ	chr4:57396333-57398308	K562	blood:	n/a	n/a
10	MXI1	chr4:57396392-57397342	K562	blood:	n/a	chr4:57396571-57396586
11	BHLHE40	chr4:57396411-57397382	K562	blood:	n/a	n/a
12	SIN3AK20	chr4:57396391-57396636	H1-hESC	embryonic stem cell:	n/a	n/a
13	HMGN3	chr4:57396411-57397408	K562	blood:	n/a	n/a
14	RCOR1	chr4:57396361-57397765	K562	blood:	n/a	n/a
15	POLR2A	chr4:57396439-57396676	HCT-116	colon:	n/a	n/a
16	CTCF	chr4:57396320-57396470	SK-N-SH_RA	brain:	n/a	n/a
17	POLR2A	chr4:57396438-57397001	HCT-116	colon:	n/a	n/a
18	TAL1	chr4:57396422-57397240	K562	blood:	n/a	chr4:57396500-57396518 chr4:57396499-57396507
19	MAX	chr4:57396441-57397515	K562	blood:	n/a	n/a
20	SIN3AK20	chr4:57396350-57396663	SK-N-SH	brain:	n/a	n/a
21	E2F4	chr4:57396436-57397617	K562	blood:	n/a	chr4:57396834-57396845
22	SIN3A	chr4:57396361-57397099	H1-hESC	embryonic stem cell:	n/a	n/a
23	GTF2B	chr4:57396387-57397046	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:57351069..57353367-chr4:57395076..57396585,2	K562	blood:
2	chr4:57332142..57335262-chr4:57394352..57398997,8	K562	blood:
3	chr4:57331783..57334990-chr4:57394745..57398997,7	K562	blood:
4	chr4:57299474..57303800-chr4:57395386..57399526,7	K562	blood:
5	chr4:57298757..57303397-chr4:57395270..57398462,7	K562	blood:

Variant related genes	Relation type
THEGL	TF binding region
ENSG00000128059	Chromatin interaction
ENSG00000128050	Chromatin interaction
ENSG00000174780	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv829941	chr4:57359551-57553136	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3447654	chr4:57395445-57397943	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57395800-57397200	Active TSS	Brain Anterior Caudate	brain
2	chr4:57396200-57396600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:57396200-57396600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:57396200-57396600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr4:57396200-57396600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr4:57396200-57396600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:57396200-57396600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:57396200-57396600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:57396200-57396600	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr4:57396200-57396600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
11	chr4:57396200-57396600	Flanking Active TSS	Fetal Thymus	thymus
12	chr4:57396200-57396600	Flanking Active TSS	Left Ventricle	heart
13	chr4:57396200-57396600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr4:57396200-57396600	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr4:57396200-57396600	Flanking Active TSS	HUVEC	blood vessel
16	chr4:57396200-57396600	Flanking Active TSS	K562	blood
17	chr4:57396200-57396600	Flanking Active TSS	NH-A	brain
18	chr4:57396200-57396800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr4:57396200-57396800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:57396200-57396800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr4:57396200-57396800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:57396200-57396800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:57396200-57396800	Active TSS	Brain Germinal Matrix	brain
24	chr4:57396200-57396800	Active TSS	Duodenum Mucosa	Duodenum
25	chr4:57396200-57396800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
26	chr4:57396200-57396800	Active TSS	Fetal Stomach	stomach
27	chr4:57396200-57396800	Bivalent/Poised TSS	GM12878-XiMat	blood
28	chr4:57396200-57397000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:57396200-57397000	Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr4:57396200-57397000	Active TSS	Muscle Satellite Cultured Cells	--
31	chr4:57396200-57397000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:57396200-57397000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:57396200-57397000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:57396200-57397000	Active TSS	Brain Hippocampus Middle	brain
35	chr4:57396200-57397000	Active TSS	Colonic Mucosa	Colon
36	chr4:57396200-57397000	Active TSS	Ovary	ovary
37	chr4:57396200-57397000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
38	chr4:57396200-57397000	Active TSS	Right Atrium	heart
39	chr4:57396200-57397000	Active TSS	Right Ventricle	heart
40	chr4:57396200-57397000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
41	chr4:57396200-57397000	Active TSS	NHLF	lung
42	chr4:57396200-57397000	Bivalent/Poised TSS	Osteobl	bone
43	chr4:57396200-57397200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:57396200-57397200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:57396200-57397200	Active TSS	Brain Angular Gyrus	brain
46	chr4:57396200-57397200	Active TSS	Brain Cingulate Gyrus	brain
47	chr4:57396200-57397200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:57396200-57397200	Active TSS	Colon Smooth Muscle	Colon
49	chr4:57396200-57397200	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr4:57396200-57397200	Active TSS	Fetal Brain Female	brain

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