Variant report

Variant	rs553810493
Chromosome Location	chr22:32928579-32928580
allele	A/G
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	CUX1	chr22:32928482-32928909	K562	blood:	n/a	n/a
2	POLR2A	chr22:32928509-32928991	Hela-S3	cervix:	n/a	n/a
3	MAFK	chr22:32927876-32928843	HepG2	liver:	n/a	n/a
4	E2F6	chr22:32928550-32928888	K562	blood:	n/a	n/a
5	RFX5	chr22:32928053-32928717	HepG2	liver:	n/a	n/a
6	ATF2	chr22:32927973-32928621	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr22:32928381-32928992	SK-N-SH_RA	brain:	n/a	n/a
8	TBL1XR1	chr22:32928334-32928810	K562	blood:	n/a	n/a
9	CEBPB	chr22:32928305-32928688	H1-hESC	embryonic stem cell:	n/a	n/a
10	USF1	chr22:32928563-32928913	K562	blood:	n/a	chr22:32928807-32928820 chr22:32928808-32928819
11	MYC	chr22:32928518-32928644	K562	blood:	n/a	n/a
12	POLR2A	chr22:32927902-32929525	HepG2	liver:	n/a	n/a
13	USF1	chr22:32928555-32929043	ECC-1	luminal epithelium:	n/a	chr22:32928807-32928820 chr22:32928808-32928819
14	HEY1	chr22:32927917-32928975	HepG2	liver:	n/a	n/a
15	YY1	chr22:32928213-32928588	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr22:32928364-32928693	K562	blood:	n/a	n/a
17	MAX	chr22:32928571-32928904	NB4	blood:	n/a	chr22:32928661-32928672 chr22:32928750-32928760
18	TEAD4	chr22:32928170-32928746	K562	blood:	n/a	n/a
19	TAF1	chr22:32927904-32928601	H1-hESC	embryonic stem cell:	n/a	n/a
20	EP300	chr22:32928291-32928893	K562	blood:	n/a	n/a
21	JUND	chr22:32928420-32928692	H1-hESC	embryonic stem cell:	n/a	chr22:32928657-32928667 chr22:32928654-32928665 chr22:32928657-32928667 chr22:32928657-32928667 chr22:32928657-32928667 chr22:32928658-32928666
22	EGR1	chr22:32928562-32928878	K562	blood:	n/a	chr22:32928768-32928781 chr22:32928835-32928842
23	MYC	chr22:32928457-32928968	HepG2	liver:	n/a	chr22:32928661-32928672 chr22:32928750-32928760
24	MYBL2	chr22:32927802-32929035	HepG2	liver:	n/a	n/a
25	POLR2A	chr22:32927976-32928607	H1-hESC	embryonic stem cell:	n/a	n/a
26	HEY1	chr22:32927864-32929055	HepG2	liver:	n/a	n/a
27	EP300	chr22:32928380-32928923	SK-N-SH_RA	brain:	n/a	n/a
28	HMGN3	chr22:32927992-32928902	K562	blood:	n/a	n/a
29	YY1	chr22:32928511-32929155	HepG2	liver:	n/a	n/a
30	MAX	chr22:32928525-32928992	ECC-1	luminal epithelium:	n/a	chr22:32928661-32928672 chr22:32928750-32928760
31	RCOR1	chr22:32928051-32929003	K562	blood:	n/a	n/a
32	CEBPB	chr22:32928076-32928873	HepG2	liver:	n/a	n/a
33	POLR2A	chr22:32928324-32928964	Hela-S3	cervix:	n/a	n/a
34	SIN3AK20	chr22:32928354-32929087	MCF-7	breast:	n/a	n/a
35	YY1	chr22:32928357-32929067	HepG2	liver:	n/a	n/a
36	JUN	chr22:32927886-32929061	K562	blood:	n/a	chr22:32928657-32928667 chr22:32928654-32928665 chr22:32928657-32928667 chr22:32928965-32928974 chr22:32928657-32928667 chr22:32928657-32928667 chr22:32928012-32928026 chr22:32928658-32928666
37	POLR2A	chr22:32927944-32929118	HepG2	liver:	n/a	n/a
38	MXI1	chr22:32928556-32929020	Hela-S3	cervix:	n/a	n/a
39	FOS	chr22:32928564-32928810	MCF10A-Er-Src	breast:	n/a	chr22:32928657-32928667 chr22:32928654-32928665 chr22:32928657-32928667 chr22:32928657-32928667 chr22:32928657-32928667 chr22:32928658-32928666
40	POLR2A	chr22:32928213-32928994	U87	brain:	n/a	n/a
41	MYC	chr22:32928545-32928971	MCF-7	breast:	n/a	chr22:32928661-32928672 chr22:32928750-32928760
42	POLR2A	chr22:32927883-32928880	HepG2	liver:	n/a	n/a
43	POLR2A	chr22:32928394-32929000	U87	brain:	n/a	n/a
44	CCNT2	chr22:32928240-32928931	K562	blood:	n/a	n/a
45	POLR2A	chr22:32928219-32928993	U87	brain:	n/a	n/a
46	POLR2A	chr22:32927983-32928924	HepG2	liver:	n/a	n/a
47	TFAP2C	chr22:32928246-32928990	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr22:32928281-32928932	K562	blood:	n/a	n/a
49	CTCF	chr22:32928440-32928590	HFF-Myc	foreskin:	n/a	n/a
50	JUND	chr22:32928142-32928725	HepG2	liver:	n/a	chr22:32928657-32928667 chr22:32928654-32928665 chr22:32928657-32928667 chr22:32928657-32928667 chr22:32928657-32928667 chr22:32928658-32928666

No.	Distal block	Cell Line	Cell type
1	chr22:32924838..32926991-chr22:32927023..32929946,3	MCF-7	breast:
2	chr22:32928032..32930048-chr6:24682726..24684882,3	MCF-7	breast:
3	chr22:32927409..32931156-chr22:32954969..32961432,7	MCF-7	breast:
4	chr22:32922025..32930472-chr22:33196157..33204507,15	MCF-7	breast:
5	chr22:32928261..32930206-chr22:32941848..32945247,3	MCF-7	breast:
6	chr22:32928149..32930709-chr22:33046752..33049031,2	MCF-7	breast:
7	chr22:32927446..32930330-chr22:32933647..32935342,2	MCF-7	breast:
8	chr22:32928103..32930722-chr22:32934980..32936586,2	MCF-7	breast:
9	chr22:32928085..32929693-chr6:24687618..24690090,2	K562	blood:
10	chr22:32926743..32929840-chr6:24682818..24685708,4	K562	blood:
11	chr22:32927008..32929585-chr6:24687196..24690090,2	K562	blood:

Variant related genes	Relation type
SYN3	TF binding region
ENSG00000112304	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914981	chr22:32912277-32940660	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
2	esv3356426	chr22:32928545-32929783	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32914400-32932000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:32923600-32931400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:32924200-32932200	Enhancers	Placenta	Placenta
4	chr22:32924400-32930200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr22:32924600-32932000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr22:32924600-32932800	Enhancers	Fetal Muscle Leg	muscle
7	chr22:32924800-32931000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr22:32924800-32931200	Enhancers	Fetal Lung	lung
9	chr22:32924800-32931200	Enhancers	NHDF-Ad	bronchial
10	chr22:32924800-32932200	Enhancers	Fetal Stomach	stomach
11	chr22:32925200-32931000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr22:32925600-32929600	Weak transcription	Brain Substantia Nigra	brain
13	chr22:32925600-32930600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr22:32925800-32929600	Weak transcription	Liver	Liver
15	chr22:32925800-32929600	Weak transcription	Brain Anterior Caudate	brain
16	chr22:32926800-32930800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr22:32926800-32932200	Enhancers	Left Ventricle	heart
18	chr22:32927000-32928600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr22:32927000-32931000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr22:32927200-32929200	Enhancers	Rectal Smooth Muscle	rectum
21	chr22:32927200-32929800	Enhancers	Ovary	ovary
22	chr22:32927200-32930800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:32927200-32931000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr22:32927200-32931000	Enhancers	Osteobl	bone
25	chr22:32927400-32928600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:32927400-32928600	Enhancers	Fetal Thymus	thymus
27	chr22:32927400-32928800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr22:32927400-32928800	Enhancers	HSMMtube	muscle
29	chr22:32927400-32929400	Enhancers	HMEC	breast
30	chr22:32927400-32929400	Enhancers	HSMM	muscle
31	chr22:32927400-32930000	Enhancers	Fetal Heart	heart
32	chr22:32927400-32930200	Enhancers	Right Atrium	heart
33	chr22:32927400-32930400	Enhancers	Colon Smooth Muscle	Colon
34	chr22:32927400-32930400	Flanking Active TSS	HepG2	liver
35	chr22:32927400-32931000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:32927600-32928600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:32927600-32931800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr22:32927800-32928600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr22:32927800-32928600	Enhancers	Fetal Intestine Large	intestine
40	chr22:32927800-32928800	Enhancers	Duodenum Mucosa	Duodenum
41	chr22:32927800-32930000	Weak transcription	Fetal Kidney	kidney
42	chr22:32927800-32932200	Enhancers	Right Ventricle	heart
43	chr22:32928000-32928600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:32928000-32928600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr22:32928000-32928600	Enhancers	Brain Hippocampus Middle	brain
46	chr22:32928000-32928600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr22:32928000-32928600	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr22:32928000-32928600	Enhancers	Small Intestine	intestine
49	chr22:32928000-32928600	Enhancers	HUVEC	blood vessel
50	chr22:32928000-32928800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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