Variant report

Variant	rs377005581
Chromosome Location	chr4:21950239-21950240
allele	C/T
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	RAD21	chr4:21950225-21950547	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr4:21949895-21951210	SK-N-SH	brain:	n/a	chr4:21950602-21950620 chr4:21950604-21950617
3	CTCF	chr4:21950140-21950290	HAc	cerebellar:	n/a	n/a
4	RAD21	chr4:21950020-21950630	H1-hESC	embryonic stem cell:	n/a	chr4:21950604-21950614 chr4:21950603-21950616 chr4:21950602-21950614
5	MAX	chr4:21949969-21950792	H1-hESC	embryonic stem cell:	n/a	chr4:21950600-21950610
6	CTCF	chr4:21950140-21950290	AoAF	blood vessel:	n/a	n/a
7	POLR2A	chr4:21950109-21950284	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr4:21950100-21950250	HBMEC	blood vessel:	n/a	n/a
9	POLR2A	chr4:21949897-21950528	H1-neurons	neurons:	n/a	n/a
10	SIN3A	chr4:21950107-21950355	H1-hESC	embryonic stem cell:	n/a	chr4:21950332-21950343
11	CTCF	chr4:21950180-21950430	AG04449	skin:	n/a	n/a
12	RAD21	chr4:21950173-21950535	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr4:21950082-21950250	Fibrobl	skin:	n/a	n/a
14	REST	chr4:21949733-21950644	H1-neurons	neurons:	n/a	chr4:21950004-21950017 chr4:21950306-21950326
15	CTCF	chr4:21950160-21950310	RPTEC	kidney:	n/a	n/a
16	CTCF	chr4:21950220-21950370	BJ	skin:	n/a	n/a
17	E2F6	chr4:21949890-21950374	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr4:21949958-21950354	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZNF143	chr4:21949971-21950441	H1-hESC	embryonic stem cell:	n/a	chr4:21950031-21950049
20	CTCF	chr4:21950120-21950270	AG04449	skin:	n/a	n/a

Variant related genes	Relation type
ENSG00000250039	TF binding region

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:89 , 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	chr4:21948800-21950800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
4	chr4:21948800-21951000	Active TSS	Ovary	ovary
5	chr4:21949200-21951200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr4:21949400-21951000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
7	chr4:21949400-21951000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
8	chr4:21949400-21951200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr4:21949400-21951200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr4:21949600-21950400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
11	chr4:21949600-21951000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr4:21949600-21951000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr4:21949600-21951000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr4:21949600-21951000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:21949600-21951200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr4:21949600-21951200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:21949600-21951200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr4:21949600-21951400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr4:21949800-21950400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
20	chr4:21949800-21950400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
21	chr4:21949800-21950400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr4:21949800-21950800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:21949800-21951000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:21949800-21951000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:21949800-21951000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:21949800-21951000	Bivalent Enhancer	Liver	Liver
27	chr4:21949800-21951000	Bivalent/Poised TSS	NHLF	lung
28	chr4:21949800-21951200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:21949800-21951200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:21949800-21951200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
31	chr4:21949800-21951200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
32	chr4:21949800-21951200	Bivalent/Poised TSS	Osteobl	bone
33	chr4:21950000-21950400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:21950000-21950400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:21950000-21950400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:21950000-21950400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:21950000-21950400	Flanking Active TSS	Fetal Brain Female	brain
38	chr4:21950000-21950400	Bivalent/Poised TSS	Fetal Lung	lung
39	chr4:21950000-21950400	Flanking Active TSS	Gastric	stomach
40	chr4:21950000-21950400	Flanking Active TSS	Pancreas	Pancrea
41	chr4:21950000-21950400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
42	chr4:21950000-21950400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
43	chr4:21950000-21950400	Flanking Bivalent TSS/Enh	HMEC	breast
44	chr4:21950000-21950600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:21950000-21950600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
46	chr4:21950000-21950600	Bivalent/Poised TSS	Right Ventricle	heart
47	chr4:21950000-21950800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:21950000-21950800	Active TSS	Colon Smooth Muscle	Colon
49	chr4:21950000-21951000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr4:21950000-21951000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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