Variant report

Variant	rs578153653
Chromosome Location	chr22:33779689-33779690
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv933455	chr22:33532697-33915429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1059927	chr22:33615699-33904339	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv544682	chr22:33615699-33904339	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1061485	chr22:33670971-33885169	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1062127	chr22:33755479-34085278	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
10	nsv544683	chr22:33755479-34085278	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
11	esv1835065	chr22:33758698-33798116	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1064026	chr22:33767185-33902059	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
13	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
14	esv1839104	chr22:33779182-33782594	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33731400-33779800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr22:33766800-33786000	Weak transcription	Fetal Lung	lung
3	chr22:33773600-33781200	Weak transcription	Primary B cells from cord blood	blood
4	chr22:33774200-33786200	Weak transcription	Fetal Heart	heart
5	chr22:33774800-33779800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:33775000-33781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr22:33775000-33789200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr22:33775200-33780000	Weak transcription	Colon Smooth Muscle	Colon
9	chr22:33775200-33781600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr22:33775200-33786200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:33775200-33789000	Weak transcription	Adipose Nuclei	Adipose
12	chr22:33775400-33785000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr22:33775600-33779800	Enhancers	Liver	Liver
14	chr22:33775600-33800400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr22:33776000-33780800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:33776000-33781200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:33776000-33781600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr22:33776000-33784800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:33776200-33780200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr22:33776200-33781000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr22:33776200-33782200	Weak transcription	HepG2	liver
22	chr22:33776200-33789200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr22:33776400-33779800	Weak transcription	Spleen	Spleen
24	chr22:33776600-33779800	Weak transcription	Brain Hippocampus Middle	brain
25	chr22:33776800-33780200	Weak transcription	Brain Substantia Nigra	brain
26	chr22:33776800-33780400	Strong transcription	Right Ventricle	heart
27	chr22:33776800-33780600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr22:33776800-33780600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr22:33776800-33780600	Strong transcription	Ovary	ovary
30	chr22:33776800-33781200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:33776800-33781200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr22:33777000-33780000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr22:33777000-33780600	Strong transcription	Aorta	Aorta
34	chr22:33777000-33780800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr22:33777000-33781000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr22:33777000-33781000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr22:33777000-33781200	Strong transcription	Fetal Stomach	stomach
38	chr22:33777200-33780000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
39	chr22:33777200-33780600	Strong transcription	Left Ventricle	heart
40	chr22:33777200-33780800	Strong transcription	Fetal Intestine Large	intestine
41	chr22:33777200-33786000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr22:33777400-33781000	Weak transcription	Brain Anterior Caudate	brain
43	chr22:33778000-33780800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr22:33778000-33790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr22:33778000-33797200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:33778200-33781400	Weak transcription	Brain Angular Gyrus	brain
47	chr22:33778200-33800800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr22:33778400-33781000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:33778600-33780600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr22:33778600-33798000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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