Variant report

Variant	rs553359738
Chromosome Location	chr4:21949880-21949881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr4:21949733-21950644	H1-neurons	neurons:	n/a	chr4:21950004-21950017 chr4:21950306-21950326

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:21949853-21949903	HPAEpiC	pulmonary alveolar:	n/a
2	chr4:21949853-21949903	PFSK-1	brain:	n/a
3	chr4:21949853-21949903	SKMC	muscle:	n/a
4	chr4:21949853-21949903	Hela-S3	cervix:	n/a
5	chr4:21949853-21949903	HCM	heart:	n/a
6	chr4:21949853-21949903	GM06990	blood:	n/a
7	chr4:21949853-21949903	BE2_C	brain:	n/a
8	chr4:21949853-21949903	HCT-116	colon:	n/a
9	chr4:21949853-21949903	AG09319	gingival:	n/a
10	chr4:21949853-21949903	NHDF-neo	bronchial:	n/a
11	chr4:21949853-21949903	SK-N-SH_RA	brain:	n/a
12	chr4:21949853-21949903	HRPEpiC	eye:	n/a
13	chr4:21949853-21949903	MCF-7	breast:	n/a
14	chr4:21949853-21949903	HIPEpiC	eye:	n/a
15	chr4:21949853-21949903	BJ	skin:	n/a
16	chr4:21949853-21949903	HL-60	blood:	n/a
17	chr4:21949853-21949903	HepG2	liver:	n/a
18	chr4:21949853-21949903	GM19239	blood:	n/a
19	chr4:21949853-21949903	MCF10A-Er-Src	breast:	n/a
20	chr4:21949853-21949903	Caco-2	colon:	n/a
21	chr4:21949853-21949903	AG04450	lung:	fetal
22	chr4:21949853-21949903	A549	lung:	n/a
23	chr4:21949853-21949903	HNPCEpiC	eye:	n/a
24	chr4:21949853-21949903	Hepatocyte	liver:	n/a
25	chr4:21949853-21949903	K562	blood:	n/a
26	chr4:21949853-21949903	NT2-D1	testis:	n/a
27	chr4:21949853-21949903	AG10803	skin:	n/a
28	chr4:21949853-21949903	HEEpiC	esophagus:	n/a
29	chr4:21949853-21949903	ovcar-3	ovarian:	n/a
30	chr4:21949853-21949903	HUVEC	blood vessel:	n/a
31	chr4:21949853-21949903	HEK293	kidney:	embryo
32	chr4:21949853-21949903	AoSMC	blood vessel:	n/a
33	chr4:21949853-21949903	GM12892	blood:	n/a
34	chr4:21949853-21949903	CMK	blood:	n/a
35	chr4:21949853-21949903	IMR90	lung:	fetal
36	chr4:21949853-21949903	HAEpiC	amniotic membrane:	n/a
37	chr4:21949853-21949903	HMEC	breast:	n/a
38	chr4:21949853-21949903	GM12878	blood:	n/a
39	chr4:21949853-21949903	U87	brain:	n/a
40	chr4:21949853-21949903	HCF	heart:	n/a
41	chr4:21949853-21949903	SK-N-SH	brain:	n/a
42	chr4:21949853-21949903	HCPEpiC	choroid plexus:	n/a
43	chr4:21949853-21949903	SAEC	small airway:	n/a
44	chr4:21949853-21949903	H1-hESC	embryonic stem cell:	embryo
45	chr4:21949853-21949903	T-47D	breast:	n/a
46	chr4:21949853-21949903	GM12891	blood:	n/a
47	chr4:21949853-21949903	NHBE	bronchial:	n/a
48	chr4:21949853-21949903	Jurkat	blood:	n/a
49	chr4:21949853-21949903	PANC-1	pancreas:	n/a
50	chr4:21949853-21949903	ECC-1	luminal epithelium:	n/a

No data

Variant related genes	Relation type
ENSG00000250039	TF binding region
ENSG00000250039	CpG island

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	nsv817467	chr4:21602921-22422816	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757924	chr4:21873204-21980559	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759231	chr4:21873204-21980559	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv428440	chr4:21873204-21980559	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3524226	chr4:21949654-21951752	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a
6	esv3524227	chr4:21949654-21951752	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21947600-21950800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr4:21948000-21951400	Active TSS	Brain Anterior Caudate	brain
3	chr4:21948600-21950000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
4	chr4:21948600-21950000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:21948800-21950800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
6	chr4:21948800-21951000	Active TSS	Ovary	ovary
7	chr4:21949200-21950000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
8	chr4:21949200-21951200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr4:21949400-21951000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
10	chr4:21949400-21951000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
11	chr4:21949400-21951200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr4:21949400-21951200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr4:21949600-21950000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
14	chr4:21949600-21950000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr4:21949600-21950000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
16	chr4:21949600-21950000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:21949600-21950000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
18	chr4:21949600-21950000	Bivalent/Poised TSS	Fetal Kidney	kidney
19	chr4:21949600-21950000	Bivalent Enhancer	Fetal Lung	lung
20	chr4:21949600-21950000	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr4:21949600-21950000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
22	chr4:21949600-21950200	Bivalent Enhancer	Fetal Thymus	thymus
23	chr4:21949600-21950400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
24	chr4:21949600-21951000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr4:21949600-21951000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr4:21949600-21951000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr4:21949600-21951000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:21949600-21951200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
29	chr4:21949600-21951200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:21949600-21951200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr4:21949600-21951400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr4:21949800-21950000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:21949800-21950000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:21949800-21950000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:21949800-21950000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:21949800-21950000	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:21949800-21950000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:21949800-21950000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:21949800-21950000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:21949800-21950000	Bivalent Enhancer	Adipose Nuclei	Adipose
41	chr4:21949800-21950000	Bivalent/Poised TSS	Fetal Brain Male	brain
42	chr4:21949800-21950000	Active TSS	Fetal Brain Female	brain
43	chr4:21949800-21950000	Bivalent Enhancer	Fetal Stomach	stomach
44	chr4:21949800-21950000	Enhancers	Gastric	stomach
45	chr4:21949800-21950000	Enhancers	Pancreas	Pancrea
46	chr4:21949800-21950000	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
47	chr4:21949800-21950000	Bivalent Enhancer	Right Ventricle	heart
48	chr4:21949800-21950000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr4:21949800-21950000	Bivalent/Poised TSS	HMEC	breast
50	chr4:21949800-21950000	Flanking Bivalent TSS/Enh	NH-A	brain

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