Variant report

Variant	rs5762506
Chromosome Location	chr22:28567192-28567193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1072967	0.88[ASN][1000 genomes]
rs11912165	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2064360	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2294969	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28720063	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752687	0.82[ASN][1000 genomes]
rs5752690	0.83[EUR][1000 genomes]
rs5752693	0.87[EUR][1000 genomes]
rs5762449	0.82[ASN][1000 genomes]
rs5762474	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5762478	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5762492	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762495	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5762498	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5762504	0.90[ASN][1000 genomes]
rs5762508	0.92[ASN][1000 genomes]
rs5762540	0.84[ASN][1000 genomes]
rs5997354	0.81[ASN][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:34 , 50 per page) page: 1

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	chr22:28557600-28567800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr22:28559600-28567200	Weak transcription	Adipose Nuclei	Adipose
7	chr22:28559600-28567600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr22:28559600-28567800	Weak transcription	Ovary	ovary
9	chr22:28559800-28577400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr22:28560200-28567200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:28565800-28567800	Weak transcription	Fetal Kidney	kidney
12	chr22:28565800-28567800	Weak transcription	Fetal Muscle Leg	muscle
13	chr22:28566400-28568800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:28566600-28568200	Enhancers	Brain Anterior Caudate	brain
15	chr22:28566600-28568400	Enhancers	Brain Hippocampus Middle	brain
16	chr22:28566600-28569000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr22:28566600-28569400	Enhancers	Colon Smooth Muscle	Colon
18	chr22:28566600-28569600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr22:28566600-28569600	Enhancers	Fetal Stomach	stomach
20	chr22:28566600-28570200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:28566800-28568200	Enhancers	Left Ventricle	heart
22	chr22:28566800-28568400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:28566800-28568400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:28566800-28569600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr22:28566800-28569800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:28566800-28571200	Enhancers	Dnd41	blood
27	chr22:28567000-28567200	Enhancers	Fetal Brain Male	brain
28	chr22:28567000-28567400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr22:28567000-28567800	Weak transcription	Fetal Lung	lung
30	chr22:28567000-28568200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr22:28567000-28568200	Enhancers	Brain Cingulate Gyrus	brain
32	chr22:28567000-28568400	Enhancers	Brain Substantia Nigra	brain
33	chr22:28567000-28569800	Enhancers	Brain Germinal Matrix	brain
34	chr22:28567000-28577600	Weak transcription	Psoas Muscle	Psoas

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