Variant report

Variant	rs556199166
Chromosome Location	chr4:21950162-21950163
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:21949895-21951210	SK-N-SH	brain:	n/a	chr4:21950602-21950620 chr4:21950604-21950617
2	CTCF	chr4:21950140-21950290	HAc	cerebellar:	n/a	n/a
3	RAD21	chr4:21950020-21950630	H1-hESC	embryonic stem cell:	n/a	chr4:21950604-21950614 chr4:21950603-21950616 chr4:21950602-21950614
4	MAX	chr4:21949969-21950792	H1-hESC	embryonic stem cell:	n/a	chr4:21950600-21950610
5	CTCF	chr4:21950140-21950290	AoAF	blood vessel:	n/a	n/a
6	POLR2A	chr4:21950109-21950284	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr4:21950121-21950206	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	chr4:21950082-21950250	Fibrobl	skin:	n/a	n/a
12	REST	chr4:21949733-21950644	H1-neurons	neurons:	n/a	chr4:21950004-21950017 chr4:21950306-21950326
13	CTCF	chr4:21950160-21950310	RPTEC	kidney:	n/a	n/a
14	E2F6	chr4:21949890-21950374	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr4:21949958-21950354	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF143	chr4:21949971-21950441	H1-hESC	embryonic stem cell:	n/a	chr4:21950031-21950049
17	CTCF	chr4:21950120-21950270	AG04449	skin:	n/a	n/a
18	CHD2	chr4:21949928-21950234	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:21950155-21950205	PFSK-1	brain:	n/a
2	chr4:21950155-21950205	PANC-1	pancreas:	n/a
3	chr4:21950155-21950205	Caco-2	colon:	n/a
4	chr4:21950155-21950205	NHBE	bronchial:	n/a
5	chr4:21950155-21950205	A549	lung:	n/a
6	chr4:21950155-21950205	PrEC	prostate:	n/a
7	chr4:21950155-21950205	AG10803	skin:	n/a
8	chr4:21950155-21950205	BE2_C	brain:	n/a
9	chr4:21950155-21950205	GM19239	blood:	n/a
10	chr4:21950155-21950205	NHDF-neo	bronchial:	n/a
11	chr4:21950155-21950205	HCM	heart:	n/a
12	chr4:21950155-21950205	AG04450	lung:	fetal
13	chr4:21950155-21950205	ovcar-3	ovarian:	n/a
14	chr4:21950155-21950205	HRPEpiC	eye:	n/a
15	chr4:21950155-21950205	RPTEC	kidney:	n/a
16	chr4:21950155-21950205	HEEpiC	esophagus:	n/a
17	chr4:21950155-21950205	NH-A	brain:	n/a
18	chr4:21950155-21950205	SK-N-MC	brain:	n/a
19	chr4:21950155-21950205	HAEpiC	amniotic membrane:	n/a
20	chr4:21950155-21950205	HMEC	breast:	n/a
21	chr4:21950155-21950205	T-47D	breast:	n/a
22	chr4:21950155-21950205	H1-hESC	embryonic stem cell:	embryo
23	chr4:21950155-21950205	BJ	skin:	n/a
24	chr4:21950155-21950205	HRCEpiC	kidney:	n/a
25	chr4:21950155-21950205	SAEC	small airway:	n/a
26	chr4:21950155-21950205	GM12891	blood:	n/a
27	chr4:21950155-21950205	HL-60	blood:	n/a
28	chr4:21950155-21950205	AG04449	skin:	fetal
29	chr4:21950155-21950205	MCF10A-Er-Src	breast:	n/a
30	chr4:21950155-21950205	GM12892	blood:	n/a
31	chr4:21950155-21950205	SK-N-SH	brain:	n/a
32	chr4:21950155-21950205	U87	brain:	n/a
33	chr4:21950155-21950205	SKMC	muscle:	n/a
34	chr4:21950155-21950205	LNCaP	prostate:	n/a
35	chr4:21950155-21950205	AG09309	skin:	n/a
36	chr4:21950155-21950205	AoSMC	blood vessel:	n/a
37	chr4:21950155-21950205	ECC-1	luminal epithelium:	n/a
38	chr4:21950155-21950205	GM06990	blood:	n/a
39	chr4:21950155-21950205	HepG2	liver:	n/a
40	chr4:21950155-21950205	Hepatocyte	liver:	n/a
41	chr4:21950155-21950205	MCF-7	breast:	n/a
42	chr4:21950155-21950205	Hela-S3	cervix:	n/a
43	chr4:21950155-21950205	HUVEC	blood vessel:	n/a
44	chr4:21950155-21950205	CMK	blood:	n/a
45	chr4:21950155-21950205	HEK293	kidney:	embryo
46	chr4:21950155-21950205	HRE	kidney:	n/a
47	chr4:21950155-21950205	HIPEpiC	eye:	n/a
48	chr4:21950155-21950205	HPAEpiC	pulmonary alveolar:	n/a
49	chr4:21950155-21950205	HCF	heart:	n/a
50	chr4:21950155-21950205	Jurkat	blood:	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:92 , 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	chr4:21949600-21950200	Bivalent Enhancer	Fetal Thymus	thymus
11	chr4:21949600-21950400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
12	chr4:21949600-21951000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr4:21949600-21951000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr4:21949600-21951000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr4:21949600-21951000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:21949600-21951200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr4:21949600-21951200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:21949600-21951200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr4:21949600-21951400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr4:21949800-21950200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:21949800-21950200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:21949800-21950200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
23	chr4:21949800-21950200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
24	chr4:21949800-21950200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:21949800-21950200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:21949800-21950200	Bivalent/Poised TSS	Fetal Heart	heart
27	chr4:21949800-21950200	Bivalent Enhancer	Lung	lung
28	chr4:21949800-21950400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr4:21949800-21950400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr4:21949800-21950400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr4:21949800-21950800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:21949800-21951000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:21949800-21951000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:21949800-21951000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:21949800-21951000	Bivalent Enhancer	Liver	Liver
36	chr4:21949800-21951000	Bivalent/Poised TSS	NHLF	lung
37	chr4:21949800-21951200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:21949800-21951200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:21949800-21951200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
40	chr4:21949800-21951200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
41	chr4:21949800-21951200	Bivalent/Poised TSS	Osteobl	bone
42	chr4:21950000-21950200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:21950000-21950200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:21950000-21950200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:21950000-21950200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:21950000-21950200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
47	chr4:21950000-21950200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
48	chr4:21950000-21950200	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
49	chr4:21950000-21950200	Bivalent Enhancer	Fetal Brain Male	brain
50	chr4:21950000-21950200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine

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