Variant report

Variant	rs12166350
Chromosome Location	chr22:28559521-28559522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28550689..28552785-chr22:28558591..28560583,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12165615	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12168729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9620750	1.00[AMR][1000 genomes]
rs9620782	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs9620791	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9625369	1.00[AMR][1000 genomes]
rs9625373	1.00[AMR][1000 genomes]
rs9625376	1.00[AMR][1000 genomes]
rs9625381	1.00[AMR][1000 genomes]
rs9625385	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9625458	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28540200-28567800	Weak transcription	Gastric	stomach
2	chr22:28540800-28567800	Weak transcription	Small Intestine	intestine
3	chr22:28543400-28568800	Weak transcription	NHDF-Ad	bronchial
4	chr22:28543800-28567200	Weak transcription	Fetal Heart	heart
5	chr22:28547600-28559600	Weak transcription	HepG2	liver
6	chr22:28548400-28566600	Weak transcription	Colon Smooth Muscle	Colon
7	chr22:28551200-28561000	Weak transcription	Osteobl	bone
8	chr22:28555000-28561800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr22:28556800-28567000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr22:28557200-28560600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr22:28557400-28559800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:28557600-28559600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:28557600-28567800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr22:28558000-28559600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:28558000-28560400	Weak transcription	Primary T cells from cord blood	blood
16	chr22:28558000-28560400	Weak transcription	HSMMtube	muscle
17	chr22:28558400-28559600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:28558400-28559600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr22:28558400-28559600	Strong transcription	Adipose Nuclei	Adipose
20	chr22:28558600-28559600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:28558600-28559600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr22:28558600-28559600	Strong transcription	Left Ventricle	heart
23	chr22:28558600-28559600	ZNF genes & repeats	Lung	lung
24	chr22:28558600-28559800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr22:28558800-28559600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:28558800-28559600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr22:28558800-28559600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr22:28558800-28559600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr22:28558800-28559600	ZNF genes & repeats	Brain Germinal Matrix	brain
30	chr22:28558800-28559600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
31	chr22:28558800-28559800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:28558800-28559800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr22:28558800-28559800	ZNF genes & repeats	Fetal Stomach	stomach
34	chr22:28559000-28559600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr22:28559000-28559600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr22:28559000-28559600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:28559000-28559600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr22:28559000-28559600	ZNF genes & repeats	Aorta	Aorta
39	chr22:28559000-28559600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
40	chr22:28559000-28559600	ZNF genes & repeats	Fetal Muscle Leg	muscle
41	chr22:28559000-28559600	ZNF genes & repeats	Ovary	ovary
42	chr22:28559000-28559600	Strong transcription	Pancreas	Pancrea
43	chr22:28559000-28559800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
44	chr22:28559000-28559800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr22:28559000-28559800	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr22:28559000-28560200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr22:28559200-28559600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr22:28559200-28559800	ZNF genes & repeats	Fetal Brain Female	brain
49	chr22:28559200-28559800	ZNF genes & repeats	Fetal Kidney	kidney
50	chr22:28559200-28559800	ZNF genes & repeats	Dnd41	blood

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