Variant report

Variant	rs556103361
Chromosome Location	chr4:57975796-57975797
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr4:57975533-57978084	IMR90	lung:	n/a	n/a
2	POLR2A	chr4:57972428-57977904	IMR90	lung:	n/a	n/a
3	POLR2A	chr4:57975464-57977315	HUVEC	blood vessel:	n/a	n/a
4	CHD1	chr4:57973519-57977830	IMR90	lung:	n/a	n/a
5	POLR2A	chr4:57975795-57975801	ProgFib	skin:	n/a	n/a
6	SPI1	chr4:57975506-57976040	HL-60	blood:	n/a	chr4:57975748-57975757
7	POLR2A	chr4:57975793-57976942	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr4:57975161-57977444	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr4:57975484-57977753	HL-60	blood:	n/a	n/a
10	CTBP2	chr4:57975585-57977526	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr4:57975736-57977586	HL-60	blood:	n/a	n/a
12	MXI1	chr4:57974888-57977913	IMR90	lung:	n/a	n/a
13	POLR2A	chr4:57975457-57977126	HUVEC	blood vessel:	n/a	n/a
14	REST	chr4:57975591-57977728	HL-60	blood:	n/a	chr4:57976519-57976529 chr4:57977134-57977147 chr4:57977324-57977332 chr4:57976830-57976843

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:57975793-57975843	MCF10A-Er-Src	breast:	n/a
2	chr4:57975793-57975843	A549	lung:	n/a
3	chr4:57975793-57975843	BJ	skin:	n/a
4	chr4:57975793-57975843	Jurkat	blood:	n/a
5	chr4:57975793-57975843	PFSK-1	brain:	n/a
6	chr4:57975793-57975843	HCPEpiC	choroid plexus:	n/a
7	chr4:57975793-57975843	AoSMC	blood vessel:	n/a
8	chr4:57975793-57975843	HCT-116	colon:	n/a
9	chr4:57975793-57975843	HepG2	liver:	n/a
10	chr4:57975793-57975843	AG09319	gingival:	n/a
11	chr4:57975793-57975843	GM12878	blood:	n/a
12	chr4:57975793-57975843	PrEC	prostate:	n/a
13	chr4:57975793-57975843	AG09309	skin:	n/a
14	chr4:57975793-57975843	ovcar-3	ovarian:	n/a
15	chr4:57975793-57975843	Hepatocyte	liver:	n/a
16	chr4:57975793-57975843	NT2-D1	testis:	n/a
17	chr4:57975793-57975843	BE2_C	brain:	n/a
18	chr4:57975793-57975843	GM12891	blood:	n/a
19	chr4:57975793-57975843	NH-A	brain:	n/a
20	chr4:57975793-57975843	NHDF-neo	bronchial:	n/a
21	chr4:57975793-57975843	HCF	heart:	n/a
22	chr4:57975793-57975843	U87	brain:	n/a
23	chr4:57975793-57975843	HCM	heart:	n/a
24	chr4:57975793-57975843	GM12892	blood:	n/a
25	chr4:57975793-57975843	IMR90	lung:	fetal
26	chr4:57975793-57975843	ECC-1	luminal epithelium:	n/a
27	chr4:57975793-57975843	T-47D	breast:	n/a
28	chr4:57975793-57975843	NB4	blood:	n/a
29	chr4:57975793-57975843	HEEpiC	esophagus:	n/a
30	chr4:57975793-57975843	Caco-2	colon:	n/a
31	chr4:57975793-57975843	SK-N-MC	brain:	n/a
32	chr4:57975793-57975843	SK-N-SH	brain:	n/a
33	chr4:57975793-57975843	HAEpiC	amniotic membrane:	n/a
34	chr4:57975793-57975843	HEK293	kidney:	embryo
35	chr4:57975793-57975843	NHBE	bronchial:	n/a
36	chr4:57975793-57975843	SAEC	small airway:	n/a
37	chr4:57975793-57975843	AG04450	lung:	fetal
38	chr4:57975793-57975843	H1-hESC	embryonic stem cell:	embryo
39	chr4:57975793-57975843	HRE	kidney:	n/a
40	chr4:57975793-57975843	HUVEC	blood vessel:	n/a
41	chr4:57975793-57975843	HRPEpiC	eye:	n/a
42	chr4:57975793-57975843	HPAEpiC	pulmonary alveolar:	n/a
43	chr4:57975793-57975843	CMK	blood:	n/a
44	chr4:57975793-57975843	MCF-7	breast:	n/a
45	chr4:57975793-57975843	GM06990	blood:	n/a
46	chr4:57975793-57975843	ProgFib	skin:	n/a
47	chr4:57975793-57975843	Hela-S3	cervix:	n/a
48	chr4:57975793-57975843	RPTEC	kidney:	n/a
49	chr4:57975793-57975843	HL-60	blood:	n/a
50	chr4:57975793-57975843	HNPCEpiC	eye:	n/a

No data

Variant related genes	Relation type
IGFBP7-AS1	TF binding region
ENSG00000238541	TF binding region
IGFBP7-AS1	CpG island
ENSG00000238541	CpG island

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	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
2	esv3324890	chr4:57975020-57977568	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57971400-57976200	Active TSS	Stomach Smooth Muscle	stomach
2	chr4:57972400-57977800	Active TSS	Aorta	Aorta
3	chr4:57973200-57977000	Active TSS	Fetal Kidney	kidney
4	chr4:57973200-57977600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:57973200-57977600	Active TSS	Psoas Muscle	Psoas
6	chr4:57973200-57977800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr4:57973400-57976600	Weak transcription	Fetal Heart	heart
8	chr4:57973400-57977200	Active TSS	Brain Hippocampus Middle	brain
9	chr4:57973400-57977600	Active TSS	Left Ventricle	heart
10	chr4:57973600-57977600	Active TSS	Right Ventricle	heart
11	chr4:57973600-57977800	Active TSS	Ovary	ovary
12	chr4:57973600-57977800	Active TSS	Right Atrium	heart
13	chr4:57973800-57977000	Active TSS	HSMMtube	muscle
14	chr4:57973800-57977400	Active TSS	Brain Anterior Caudate	brain
15	chr4:57974000-57976400	Active TSS	NH-A	brain
16	chr4:57974200-57975800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:57974200-57977000	Active TSS	A549	lung
18	chr4:57974200-57977800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:57974400-57976800	Active TSS	Muscle Satellite Cultured Cells	--
20	chr4:57974400-57976800	Active TSS	NHLF	lung
21	chr4:57974400-57977600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:57974600-57975800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:57974600-57975800	Active TSS	HMEC	breast
24	chr4:57974600-57976000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:57974600-57976600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:57974600-57977000	Active TSS	NHEK	skin
27	chr4:57974600-57977400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:57974800-57976000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:57974800-57976800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr4:57974800-57976800	Active TSS	Osteobl	bone
31	chr4:57974800-57977400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:57975000-57975800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr4:57975000-57975800	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr4:57975000-57976800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr4:57975000-57977000	Active TSS	Rectal Smooth Muscle	rectum
36	chr4:57975000-57977000	Active TSS	HSMM	muscle
37	chr4:57975000-57977400	Active TSS	Colon Smooth Muscle	Colon
38	chr4:57975000-57977600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:57975000-57977800	Active TSS	Brain Substantia Nigra	brain
40	chr4:57975000-57977800	Active TSS	NHDF-Ad	bronchial
41	chr4:57975200-57975800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:57975200-57975800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:57975200-57975800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr4:57975200-57976200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr4:57975200-57976200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr4:57975200-57976200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
47	chr4:57975200-57976200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
48	chr4:57975200-57976800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
49	chr4:57975200-57977000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr4:57975200-57977000	Bivalent/Poised TSS	Fetal Intestine Small	intestine

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