Variant report

Variant	rs75292652
Chromosome Location	chr22:29469873-29469874
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29279568..29281765-chr22:29467462..29470387,2	K562	blood:
2	chr22:29296014..29298873-chr22:29469784..29471423,2	K562	blood:

Variant related genes	Relation type
ENSG00000183579	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524259	chr22:29467221-29482221	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3350194	chr22:29468252-29470350	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29467000-29470400	Enhancers	Fetal Heart	heart
2	chr22:29467200-29470200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr22:29467200-29470400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr22:29467200-29470400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr22:29467200-29470600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr22:29467200-29471200	Active TSS	Ovary	ovary
7	chr22:29467400-29470000	Active TSS	Aorta	Aorta
8	chr22:29467400-29470200	Active TSS	Psoas Muscle	Psoas
9	chr22:29467400-29470200	Active TSS	Right Atrium	heart
10	chr22:29467600-29470400	Active TSS	HSMM	muscle
11	chr22:29467800-29470200	Active TSS	Brain Substantia Nigra	brain
12	chr22:29467800-29470400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr22:29468000-29470600	Flanking Active TSS	Colonic Mucosa	Colon
14	chr22:29468400-29470000	Active TSS	HSMMtube	muscle
15	chr22:29468600-29470200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr22:29468600-29470200	Active TSS	Brain Angular Gyrus	brain
17	chr22:29468600-29470200	Active TSS	Brain Anterior Caudate	brain
18	chr22:29468600-29470200	Active TSS	Left Ventricle	heart
19	chr22:29468600-29470600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:29468600-29470600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr22:29468600-29471400	Active TSS	Fetal Kidney	kidney
22	chr22:29468800-29470000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:29468800-29470000	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr22:29468800-29470000	Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr22:29468800-29470000	Active TSS	Pancreas	Pancrea
26	chr22:29468800-29470000	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr22:29468800-29470000	Active TSS	HepG2	liver
28	chr22:29468800-29470200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr22:29468800-29470200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:29468800-29470200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr22:29468800-29470200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr22:29468800-29470200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr22:29468800-29470200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:29468800-29470200	Active TSS	Colon Smooth Muscle	Colon
35	chr22:29468800-29470200	Active TSS	Esophagus	oesophagus
36	chr22:29468800-29470200	Active TSS	Fetal Intestine Large	intestine
37	chr22:29468800-29470200	Active TSS	Fetal Intestine Small	intestine
38	chr22:29468800-29470200	Bivalent/Poised TSS	Fetal Stomach	stomach
39	chr22:29468800-29470200	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr22:29468800-29470200	Active TSS	NHEK	skin
41	chr22:29468800-29470400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:29468800-29470400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr22:29468800-29470400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr22:29468800-29470400	Active TSS	Lung	lung
45	chr22:29468800-29470400	Active TSS	NHDF-Ad	bronchial
46	chr22:29468800-29470800	Active TSS	Rectal Smooth Muscle	rectum
47	chr22:29468800-29471200	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr22:29469000-29470200	Active TSS	Gastric	stomach
49	chr22:29469000-29470400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr22:29469000-29470600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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