Variant report

Variant	rs5762537
Chromosome Location	chr22:28643360-28643361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs5752698	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs5752722	1.00[AMR][1000 genomes]
rs5762524	1.00[AMR][1000 genomes]
rs5762533	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5762543	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5762546	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs5762621	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
2	chr22:28635600-28650800	Weak transcription	Dnd41	blood
3	chr22:28639400-28643600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:28639400-28643800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr22:28639400-28644000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr22:28639400-28644200	Enhancers	Osteobl	bone
7	chr22:28639400-28645800	Enhancers	Fetal Heart	heart
8	chr22:28639600-28644000	Enhancers	NH-A	brain
9	chr22:28640800-28643400	Enhancers	HSMMtube	muscle
10	chr22:28640800-28644000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr22:28640800-28644200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr22:28640800-28646200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:28641000-28643800	Weak transcription	Right Atrium	heart
14	chr22:28641000-28644000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:28641000-28645600	Weak transcription	Aorta	Aorta
16	chr22:28641000-28646800	Weak transcription	Small Intestine	intestine
17	chr22:28641000-28655800	Weak transcription	Fetal Kidney	kidney
18	chr22:28641200-28648400	Weak transcription	Fetal Brain Male	brain
19	chr22:28641400-28643400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr22:28641400-28643600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:28641400-28644000	Enhancers	NHLF	lung
22	chr22:28641400-28644200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr22:28641600-28645000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr22:28641800-28643400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:28641800-28644200	Weak transcription	Stomach Mucosa	stomach
26	chr22:28641800-28644600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr22:28641800-28644600	Weak transcription	Fetal Intestine Small	intestine
28	chr22:28642000-28643600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr22:28642000-28648200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr22:28642400-28643600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
31	chr22:28642400-28644400	Enhancers	Fetal Stomach	stomach
32	chr22:28642400-28646800	Enhancers	K562	blood
33	chr22:28642400-28649400	Weak transcription	Fetal Intestine Large	intestine
34	chr22:28642600-28644400	Enhancers	Psoas Muscle	Psoas
35	chr22:28642600-28644600	Weak transcription	A549	lung
36	chr22:28642800-28643400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:28642800-28643600	Enhancers	Adipose Nuclei	Adipose
38	chr22:28642800-28643600	Weak transcription	Colon Smooth Muscle	Colon
39	chr22:28642800-28643600	Flanking Active TSS	NHDF-Ad	bronchial
40	chr22:28642800-28644600	Enhancers	Brain Substantia Nigra	brain
41	chr22:28642800-28645000	Enhancers	Brain Anterior Caudate	brain
42	chr22:28642800-28647400	Weak transcription	HepG2	liver
43	chr22:28643000-28643600	Enhancers	Fetal Muscle Trunk	muscle
44	chr22:28643000-28644000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
45	chr22:28643000-28644200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr22:28643000-28644200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr22:28643000-28644200	Enhancers	Left Ventricle	heart
48	chr22:28643000-28644400	Enhancers	Fetal Muscle Leg	muscle
49	chr22:28643000-28644400	Enhancers	Gastric	stomach
50	chr22:28643000-28645200	Enhancers	Brain Hippocampus Middle	brain

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