Variant report

Variant	rs144307013
Chromosome Location	chr22:33454633-33454634
allele	G/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	MAZ	chr22:33454153-33454928	HepG2	liver:	n/a	chr22:33454485-33454494 chr22:33454459-33454469
2	POLR2A	chr22:33454121-33454728	HEK293	kidney:	n/a	n/a
3	EGR1	chr22:33454219-33454723	H1-hESC	embryonic stem cell:	n/a	chr22:33454460-33454470 chr22:33454484-33454494 chr22:33454483-33454496 chr22:33454484-33454493 chr22:33454482-33454496 chr22:33454469-33454479 chr22:33454459-33454469 chr22:33454483-33454496 chr22:33454484-33454495
4	MAX	chr22:33454176-33454858	HepG2	liver:	n/a	chr22:33454485-33454494 chr22:33454459-33454469
5	MAX	chr22:33453431-33454933	HepG2	liver:	n/a	chr22:33454485-33454494 chr22:33453841-33453850 chr22:33454459-33454469
6	USF1	chr22:33454455-33454858	HepG2	liver:	n/a	n/a
7	POLR2A	chr22:33454419-33454757	HepG2	liver:	n/a	n/a
8	USF1	chr22:33454572-33454787	HepG2	liver:	n/a	n/a
9	TBP	chr22:33454212-33455008	HepG2	liver:	n/a	n/a
10	MYBL2	chr22:33454180-33454945	HepG2	liver:	n/a	n/a
11	TBP	chr22:33453531-33454649	H1-hESC	embryonic stem cell:	n/a	n/a
12	HDAC2	chr22:33454586-33454915	HepG2	liver:	n/a	n/a
13	NFIC	chr22:33454416-33454868	HepG2	liver:	n/a	n/a
14	POLR2A	chr22:33454118-33454705	HepG2	liver:	n/a	n/a
15	ZNF143	chr22:33454216-33454678	H1-hESC	embryonic stem cell:	n/a	chr22:33454320-33454330
16	EGR1	chr22:33454151-33454696	H1-hESC	embryonic stem cell:	n/a	chr22:33454460-33454470 chr22:33454484-33454494 chr22:33454483-33454496 chr22:33454484-33454493 chr22:33454482-33454496 chr22:33454469-33454479 chr22:33454459-33454469 chr22:33454483-33454496 chr22:33454484-33454495
17	RAD21	chr22:33454211-33454662	HepG2	liver:	n/a	chr22:33454299-33454312
18	SP1	chr22:33454485-33455030	HepG2	liver:	n/a	n/a
19	FOXA1	chr22:33454568-33454949	HepG2	liver:	n/a	n/a
20	HNF4G	chr22:33454473-33454881	HepG2	liver:	n/a	n/a
21	POLR2A	chr22:33454021-33454811	HepG2	liver:	n/a	n/a
22	SIN3A	chr22:33453447-33454725	H1-hESC	embryonic stem cell:	n/a	chr22:33453720-33453728 chr22:33454462-33454473 chr22:33454450-33454463 chr22:33453953-33453962
23	HNF4G	chr22:33454437-33455070	HepG2	liver:	n/a	n/a
24	HNF4A	chr22:33454157-33455006	HepG2	liver:	n/a	chr22:33454544-33454559 chr22:33454800-33454815
25	USF1	chr22:33454454-33454767	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr22:33454455-33454650	HepG2	liver:	n/a	n/a
27	HEY1	chr22:33454437-33454816	HepG2	liver:	n/a	n/a
28	HNF4A	chr22:33454319-33454923	HepG2	liver:	n/a	chr22:33454544-33454559 chr22:33454800-33454815
29	EP300	chr22:33454620-33454855	HepG2	liver:	n/a	n/a
30	CTCF	chr22:33454074-33454700	A549	lung:	n/a	n/a
31	FOXA2	chr22:33454624-33454901	HepG2	liver:	n/a	n/a
32	REST	chr22:33453147-33454647	H1-neurons	neurons:	n/a	chr22:33453952-33453962 chr22:33453386-33453400
33	CTCF	chr22:33454158-33454732	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr22:33454325-33454803	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr22:33454215-33454690	HepG2	liver:	n/a	n/a
36	POLR2A	chr22:33454126-33454844	HepG2	liver:	n/a	n/a
37	CTCF	chr22:33454127-33454667	K562	blood:	n/a	n/a
38	USF1	chr22:33454385-33454855	H1-hESC	embryonic stem cell:	n/a	n/a
39	USF2	chr22:33454522-33454840	H1-hESC	embryonic stem cell:	n/a	n/a
40	HEY1	chr22:33454080-33454779	HepG2	liver:	n/a	chr22:33454309-33454324 chr22:33454318-33454333
41	POLR2A	chr22:33454050-33454633	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr22:33454061-33454674	SK-N-SH	brain:	n/a	n/a
43	HNF4A	chr22:33454546-33454935	HepG2	liver:	n/a	chr22:33454800-33454815
44	NFYB	chr22:33454292-33454741	K562	blood:	n/a	n/a
45	EP300	chr22:33454475-33454998	HepG2	liver:	n/a	n/a
46	NFIC	chr22:33454446-33454879	HepG2	liver:	n/a	n/a
47	EGR1	chr22:33454302-33454673	MCF-7	breast:	n/a	chr22:33454460-33454470 chr22:33454484-33454494 chr22:33454483-33454496 chr22:33454484-33454493 chr22:33454482-33454496 chr22:33454469-33454479 chr22:33454459-33454469 chr22:33454483-33454496 chr22:33454484-33454495

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:33454623-33454673	GM06990	blood:	n/a
2	chr22:33454623-33454673	BE2_C	brain:	n/a
3	chr22:33454632-33454682	AG04449	skin:	fetal
4	chr22:33454616-33454666	AG09309	skin:	n/a
5	chr22:33454632-33454682	HepG2	liver:	n/a
6	chr22:33454616-33454666	NH-A	brain:	n/a
7	chr22:33454623-33454673	NHBE	bronchial:	n/a
8	chr22:33454632-33454682	NH-A	brain:	n/a
9	chr22:33454632-33454682	AG10803	skin:	n/a
10	chr22:33454632-33454682	HL-60	blood:	n/a
11	chr22:33454616-33454666	BE2_C	brain:	n/a
12	chr22:33454632-33454682	HRE	kidney:	n/a
13	chr22:33454616-33454666	HRCEpiC	kidney:	n/a
14	chr22:33454623-33454673	CMK	blood:	n/a
15	chr22:33454616-33454666	U87	brain:	n/a
16	chr22:33454623-33454673	HepG2	liver:	n/a
17	chr22:33454623-33454673	HRCEpiC	kidney:	n/a
18	chr22:33454632-33454682	RPTEC	kidney:	n/a
19	chr22:33454616-33454666	GM12891	blood:	n/a
20	chr22:33454632-33454682	BJ	skin:	n/a
21	chr22:33454632-33454682	NT2-D1	testis:	n/a
22	chr22:33454616-33454666	HPAEpiC	pulmonary alveolar:	n/a
23	chr22:33454616-33454666	AG04449	skin:	fetal
24	chr22:33454616-33454666	MCF-7	breast:	n/a
25	chr22:33454632-33454682	CMK	blood:	n/a
26	chr22:33454623-33454673	LNCaP	prostate:	n/a
27	chr22:33454623-33454673	T-47D	breast:	n/a
28	chr22:33454623-33454673	Caco-2	colon:	n/a
29	chr22:33454623-33454673	SKMC	muscle:	n/a
30	chr22:33454632-33454682	PrEC	prostate:	n/a
31	chr22:33454616-33454666	RPTEC	kidney:	n/a
32	chr22:33454632-33454682	HRPEpiC	eye:	n/a
33	chr22:33454632-33454682	H1-hESC	embryonic stem cell:	embryo
34	chr22:33454632-33454682	HCF	heart:	n/a
35	chr22:33454632-33454682	HAEpiC	amniotic membrane:	n/a
36	chr22:33454616-33454666	HMEC	breast:	n/a
37	chr22:33454623-33454673	BJ	skin:	n/a
38	chr22:33454632-33454682	PFSK-1	brain:	n/a
39	chr22:33454632-33454682	SKMC	muscle:	n/a
40	chr22:33454623-33454673	HL-60	blood:	n/a
41	chr22:33454632-33454682	GM19239	blood:	n/a
42	chr22:33454616-33454666	ovcar-3	ovarian:	n/a
43	chr22:33454616-33454666	Jurkat	blood:	n/a
44	chr22:33454623-33454673	HRPEpiC	eye:	n/a
45	chr22:33454623-33454673	SAEC	small airway:	n/a
46	chr22:33454632-33454682	GM12892	blood:	n/a
47	chr22:33454623-33454673	HIPEpiC	eye:	n/a
48	chr22:33454623-33454673	GM12891	blood:	n/a
49	chr22:33454623-33454673	A549	lung:	n/a
50	chr22:33454616-33454666	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32846948-32860159..22:33452523-33459358	Hela-S3	cervix:
2	chr22:32523564..32526507-chr22:33453978..33455661,2	MCF-7	breast:
3	22:32360288-32405313..22:33452523-33459358	H1-hESC	embryonic stem cell:	embryo
4	22:33030812-33041554..22:33452523-33459358	GM12878	blood:

Variant related genes	Relation type
SYN3	TF binding region
SYN3	CpG island
ENSG00000230866	Chromatin interaction
ENSG00000251890	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000237439	Chromatin interaction
ENSG00000240647	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1067068	chr22:33452180-33851033	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	esv3390652	chr22:33452977-33455825	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33451200-33454800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
2	chr22:33452200-33454800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
3	chr22:33452800-33454800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
4	chr22:33453400-33454800	Bivalent Enhancer	NHEK	skin
5	chr22:33453600-33454800	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr22:33453800-33454800	Bivalent Enhancer	Liver	Liver
7	chr22:33453800-33454800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:33453800-33454800	Active TSS	HepG2	liver
9	chr22:33454000-33454800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:33454000-33454800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr22:33454000-33454800	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr22:33454000-33454800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:33454000-33454800	Active TSS	Fetal Brain Female	brain
14	chr22:33454000-33454800	Bivalent Enhancer	Spleen	Spleen
15	chr22:33454000-33455000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr22:33454200-33454800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr22:33454200-33454800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:33454200-33454800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
19	chr22:33454200-33454800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr22:33454200-33454800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:33454200-33454800	Bivalent Enhancer	Adipose Nuclei	Adipose
22	chr22:33454200-33454800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr22:33454400-33454800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:33454400-33454800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:33454400-33454800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:33454400-33454800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
27	chr22:33454400-33454800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr22:33454400-33454800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr22:33454400-33454800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr22:33454400-33454800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr22:33454400-33454800	Bivalent Enhancer	Fetal Stomach	stomach
32	chr22:33454400-33458400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr22:33454600-33454800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr22:33454600-33454800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
35	chr22:33454600-33454800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
36	chr22:33454600-33454800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr22:33454600-33454800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr22:33454600-33454800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr22:33454600-33454800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr22:33454600-33454800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr22:33454600-33454800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr22:33454600-33454800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
43	chr22:33454600-33454800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
44	chr22:33454600-33454800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
45	chr22:33454600-33454800	Bivalent Enhancer	Placenta	Placenta
46	chr22:33454600-33454800	Flanking Bivalent TSS/Enh	A549	lung

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