Variant report

Variant	rs5762456
Chromosome Location	chr22:28427336-28427337
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28422055..28424855-chr22:28425948..28427565,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2073029	0.81[CEU][hapmap]
rs5752692	0.93[CEU][hapmap]
rs5762398	0.89[AMR][1000 genomes]
rs5762404	0.85[CEU][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs5762430	0.86[CEU][hapmap]
rs5762458	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28409000-28428000	Genic enhancers	Fetal Muscle Leg	muscle
2	chr22:28409400-28430400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:28416600-28431000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr22:28418600-28429800	Strong transcription	Dnd41	blood
5	chr22:28419800-28427400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr22:28423000-28427400	Enhancers	Brain Cingulate Gyrus	brain
7	chr22:28423000-28427400	Genic enhancers	Fetal Brain Female	brain
8	chr22:28423000-28427600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr22:28423000-28427600	Enhancers	Esophagus	oesophagus
10	chr22:28423200-28427400	Enhancers	HUVEC	blood vessel
11	chr22:28423200-28427800	Enhancers	Colon Smooth Muscle	Colon
12	chr22:28423400-28427600	Enhancers	Pancreas	Pancrea
13	chr22:28423400-28431800	Enhancers	Fetal Thymus	thymus
14	chr22:28424600-28427400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr22:28425400-28427800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:28425400-28428400	Weak transcription	K562	blood
17	chr22:28425400-28430400	Weak transcription	HSMMtube	muscle
18	chr22:28425400-28430600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr22:28425600-28430200	Weak transcription	HSMM	muscle
20	chr22:28425600-28430600	Weak transcription	NH-A	brain
21	chr22:28425600-28430600	Weak transcription	Osteobl	bone
22	chr22:28425600-28430800	Weak transcription	Thymus	Thymus
23	chr22:28425800-28430200	Weak transcription	Aorta	Aorta
24	chr22:28425800-28430200	Weak transcription	Ovary	ovary
25	chr22:28425800-28430400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr22:28426000-28428400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:28426000-28428400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr22:28426000-28428400	Weak transcription	Fetal Heart	heart
29	chr22:28426000-28430400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr22:28426200-28427400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:28426200-28427400	Enhancers	Fetal Lung	lung
32	chr22:28426200-28427400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr22:28426200-28427600	Enhancers	Fetal Muscle Trunk	muscle
34	chr22:28426200-28427600	Enhancers	Lung	lung
35	chr22:28426200-28427800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:28426200-28428800	Weak transcription	Brain Germinal Matrix	brain
37	chr22:28426200-28428800	Weak transcription	Placenta	Placenta
38	chr22:28426200-28429800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr22:28426200-28430000	Weak transcription	Right Ventricle	heart
40	chr22:28426200-28430200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr22:28426200-28430200	Weak transcription	Fetal Intestine Large	intestine
42	chr22:28426200-28430200	Weak transcription	NHLF	lung
43	chr22:28426200-28430400	Weak transcription	NHDF-Ad	bronchial
44	chr22:28426400-28428800	Weak transcription	Adipose Nuclei	Adipose
45	chr22:28426400-28429200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr22:28426400-28429800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr22:28426400-28430000	Weak transcription	Psoas Muscle	Psoas
48	chr22:28426400-28430400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr22:28426400-28430400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr22:28426400-28430400	Weak transcription	Stomach Mucosa	stomach

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