Variant report

Variant	rs192101326
Chromosome Location	chr22:33453255-33453256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32846948-32860159..22:33452523-33459358	Hela-S3	cervix:
2	22:32360288-32405313..22:33452523-33459358	H1-hESC	embryonic stem cell:	embryo
3	22:33030812-33041554..22:33452523-33459358	GM12878	blood:

Variant related genes	Relation type
ENSG00000240647	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000251890	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33449400-33453600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
2	chr22:33450800-33454600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr22:33451200-33454800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
4	chr22:33452200-33454800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
5	chr22:33452400-33453400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
6	chr22:33452400-33453400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr22:33452400-33453800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:33452600-33454600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
9	chr22:33452800-33453400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:33452800-33454000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr22:33452800-33454000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr22:33452800-33454000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
13	chr22:33452800-33454200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr22:33452800-33454800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
15	chr22:33453000-33453400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr22:33453000-33453400	Active TSS	HepG2	liver
17	chr22:33453000-33453600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:33453000-33453800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
19	chr22:33453000-33454000	Bivalent/Poised TSS	Fetal Brain Female	brain
20	chr22:33453000-33454400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:33453200-33453400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
22	chr22:33453200-33453400	Bivalent Enhancer	Fetal Stomach	stomach
23	chr22:33453200-33453600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
24	chr22:33453200-33453600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:33453200-33453600	Bivalent Enhancer	Brain Germinal Matrix	brain
26	chr22:33453200-33453800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr22:33453200-33453800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:33453200-33454000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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