Variant report

Variant	rs535072158
Chromosome Location	chr22:33454202-33454203
allele	A/C
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	chr22:33454181-33454402	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:33453952-33454486	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr22:33454121-33454728	HEK293	kidney:	n/a	n/a
5	MAX	chr22:33454176-33454858	HepG2	liver:	n/a	chr22:33454485-33454494 chr22:33454459-33454469
6	MAX	chr22:33453431-33454933	HepG2	liver:	n/a	chr22:33454485-33454494 chr22:33453841-33453850 chr22:33454459-33454469
7	RCOR1	chr22:33454115-33454243	HepG2	liver:	n/a	n/a
8	MYBL2	chr22:33454180-33454945	HepG2	liver:	n/a	n/a
9	TBP	chr22:33453531-33454649	H1-hESC	embryonic stem cell:	n/a	n/a
10	RFX5	chr22:33454113-33454351	HepG2	liver:	n/a	n/a
11	RAD21	chr22:33454153-33454479	HepG2	liver:	n/a	chr22:33454168-33454178 chr22:33454299-33454312
12	YY1	chr22:33454058-33454575	HepG2	liver:	n/a	chr22:33454452-33454466 chr22:33454065-33454079
13	POLR2A	chr22:33454155-33454455	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr22:33454109-33454393	HepG2	liver:	n/a	n/a
15	POLR2A	chr22:33454118-33454705	HepG2	liver:	n/a	n/a
16	TAF1	chr22:33454156-33454544	H1-hESC	embryonic stem cell:	n/a	n/a
17	TAF7	chr22:33454104-33454430	H1-hESC	embryonic stem cell:	n/a	n/a
18	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
19	CHD1	chr22:33454164-33454361	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr22:33454152-33454483	HepG2	liver:	n/a	n/a
21	TEAD4	chr22:33454151-33454505	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr22:33454134-33454498	K562	blood:	n/a	n/a
23	POLR2A	chr22:33454021-33454811	HepG2	liver:	n/a	n/a
24	SIN3A	chr22:33453447-33454725	H1-hESC	embryonic stem cell:	n/a	chr22:33453720-33453728 chr22:33454462-33454473 chr22:33454450-33454463 chr22:33453953-33453962
25	CTCF	chr22:33454165-33454597	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPD	chr22:33454190-33454501	HepG2	liver:	n/a	n/a
27	HNF4A	chr22:33454157-33455006	HepG2	liver:	n/a	chr22:33454544-33454559 chr22:33454800-33454815
28	RAD21	chr22:33454163-33454561	H1-hESC	embryonic stem cell:	n/a	chr22:33454168-33454178 chr22:33454299-33454312
29	HDAC2	chr22:33454199-33454564	HepG2	liver:	n/a	n/a
30	HEY1	chr22:33454113-33454397	HepG2	liver:	n/a	chr22:33454309-33454324 chr22:33454318-33454333
31	CTCF	chr22:33454074-33454700	A549	lung:	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	TAF1	chr22:33454124-33454555	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr22:33454076-33454529	H1-hESC	embryonic stem cell:	n/a	chr22:33454168-33454178 chr22:33454299-33454312
36	UBTF	chr22:33454185-33454366	K562	blood:	n/a	n/a
37	CTCF	chr22:33454200-33454350	GM12867	blood:	n/a	n/a
38	POLR2A	chr22:33454126-33454844	HepG2	liver:	n/a	n/a
39	POLR2A	chr22:33453517-33454594	H1-hESC	embryonic stem cell:	n/a	n/a
40	CCNT2	chr22:33454020-33454464	K562	blood:	n/a	n/a
41	CTCF	chr22:33454127-33454667	K562	blood:	n/a	n/a
42	SIN3AK20	chr22:33454031-33454454	H1-hESC	embryonic stem cell:	n/a	n/a
43	HEY1	chr22:33454080-33454779	HepG2	liver:	n/a	chr22:33454309-33454324 chr22:33454318-33454333
44	POLR2A	chr22:33454050-33454633	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr22:33454061-33454674	SK-N-SH	brain:	n/a	n/a
46	TAF1	chr22:33453938-33454535	HepG2	liver:	n/a	n/a
47	CTCF	chr22:33454100-33454250	GM12864	blood:	n/a	n/a
48	CTCF	chr22:33454150-33454516	HepG2	liver:	n/a	n/a
49	POLR2A	chr22:33454071-33454565	H1-neurons	neurons:	n/a	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
ENSG00000184459	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000251890	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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33450800-33454600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr22:33451200-33454800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
3	chr22:33452200-33454800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
4	chr22:33452600-33454600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
5	chr22:33452800-33454800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
6	chr22:33453000-33454400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:33453400-33454800	Bivalent Enhancer	NHEK	skin
8	chr22:33453600-33454400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:33453600-33454400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
10	chr22:33453600-33454400	Enhancers	Gastric	stomach
11	chr22:33453600-33454400	Enhancers	Lung	lung
12	chr22:33453600-33454800	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr22:33453800-33454400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr22:33453800-33454400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:33453800-33454400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr22:33453800-33454400	Bivalent Enhancer	Fetal Brain Male	brain
17	chr22:33453800-33454400	Flanking Bivalent TSS/Enh	Thymus	Thymus
18	chr22:33453800-33454600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr22:33453800-33454600	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr22:33453800-33454600	Active TSS	Right Atrium	heart
21	chr22:33453800-33454800	Bivalent Enhancer	Liver	Liver
22	chr22:33453800-33454800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr22:33453800-33454800	Active TSS	HepG2	liver
24	chr22:33454000-33454400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:33454000-33454400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:33454000-33454400	Bivalent/Poised TSS	Primary B cells from peripheral blood	blood
27	chr22:33454000-33454400	Bivalent/Poised TSS	Colonic Mucosa	Colon
28	chr22:33454000-33454400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr22:33454000-33454400	Bivalent/Poised TSS	Fetal Stomach	stomach
30	chr22:33454000-33454400	Bivalent/Poised TSS	Left Ventricle	heart
31	chr22:33454000-33454400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
32	chr22:33454000-33454600	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr22:33454000-33454600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr22:33454000-33454600	Bivalent/Poised TSS	Right Ventricle	heart
35	chr22:33454000-33454600	Bivalent/Poised TSS	A549	lung
36	chr22:33454000-33454800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:33454000-33454800	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr22:33454000-33454800	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr22:33454000-33454800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr22:33454000-33454800	Active TSS	Fetal Brain Female	brain
41	chr22:33454000-33454800	Bivalent Enhancer	Spleen	Spleen
42	chr22:33454000-33455000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr22:33454200-33454400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr22:33454200-33454400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
45	chr22:33454200-33454400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
46	chr22:33454200-33454400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:33454200-33454400	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
48	chr22:33454200-33454400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr22:33454200-33454400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr22:33454200-33454400	Bivalent/Poised TSS	Brain Germinal Matrix	brain

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