Variant report

Variant	rs559075980
Chromosome Location	chr22:33454054-33454055
allele	C/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	POLR2A	chr22:33453952-33454486	H1-neurons	neurons:	n/a	n/a
2	CTCF	chr22:33454040-33454190	GM12868	blood:	n/a	n/a
3	CTCF	chr22:33453920-33454070	WERI-Rb-1	eye:	n/a	n/a
4	MAX	chr22:33453431-33454933	HepG2	liver:	n/a	chr22:33454485-33454494 chr22:33453841-33453850 chr22:33454459-33454469
5	TBP	chr22:33453531-33454649	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr22:33454021-33454811	HepG2	liver:	n/a	n/a
7	SIN3A	chr22:33453447-33454725	H1-hESC	embryonic stem cell:	n/a	chr22:33453720-33453728 chr22:33454462-33454473 chr22:33454450-33454463 chr22:33453953-33453962
8	REST	chr22:33453147-33454647	H1-neurons	neurons:	n/a	chr22:33453952-33453962 chr22:33453386-33453400
9	POLR2A	chr22:33453517-33454594	H1-hESC	embryonic stem cell:	n/a	n/a
10	CCNT2	chr22:33454020-33454464	K562	blood:	n/a	n/a
11	SIN3AK20	chr22:33454031-33454454	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr22:33453940-33454090	A549	lung:	n/a	n/a
13	POLR2A	chr22:33454050-33454633	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAF1	chr22:33453938-33454535	HepG2	liver:	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
ENSG00000251890	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000237439	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000230866	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:70 , 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	chr22:33452800-33454200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr22:33452800-33454800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
7	chr22:33453000-33454400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:33453400-33454200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr22:33453400-33454800	Bivalent Enhancer	NHEK	skin
10	chr22:33453600-33454200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:33453600-33454200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
12	chr22:33453600-33454200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr22:33453600-33454200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
14	chr22:33453600-33454200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
15	chr22:33453600-33454400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:33453600-33454400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
17	chr22:33453600-33454400	Enhancers	Gastric	stomach
18	chr22:33453600-33454400	Enhancers	Lung	lung
19	chr22:33453600-33454800	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr22:33453800-33454200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:33453800-33454200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
22	chr22:33453800-33454200	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
23	chr22:33453800-33454200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
24	chr22:33453800-33454200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr22:33453800-33454200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:33453800-33454200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr22:33453800-33454200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
28	chr22:33453800-33454200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
29	chr22:33453800-33454200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr22:33453800-33454200	Enhancers	Pancreas	Pancrea
31	chr22:33453800-33454400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr22:33453800-33454400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr22:33453800-33454400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr22:33453800-33454400	Bivalent Enhancer	Fetal Brain Male	brain
35	chr22:33453800-33454400	Flanking Bivalent TSS/Enh	Thymus	Thymus
36	chr22:33453800-33454600	Active TSS	H9 Cell Line	embryonic stem cell
37	chr22:33453800-33454600	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr22:33453800-33454600	Active TSS	Right Atrium	heart
39	chr22:33453800-33454800	Bivalent Enhancer	Liver	Liver
40	chr22:33453800-33454800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr22:33453800-33454800	Active TSS	HepG2	liver
42	chr22:33454000-33454200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr22:33454000-33454200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
44	chr22:33454000-33454200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr22:33454000-33454200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr22:33454000-33454200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
47	chr22:33454000-33454200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
48	chr22:33454000-33454200	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
49	chr22:33454000-33454200	Flanking Active TSS	Psoas Muscle	Psoas
50	chr22:33454000-33454200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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