Variant report

Variant	rs58514041
Chromosome Location	chr22:31269400-31269401
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	chr22:31268537..31270740-chr22:31271570..31273370,2	K562	blood:
2	chr22:31267836..31272523-chr22:31274203..31280093,6	K562	blood:

Variant related genes	Relation type
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12166082	0.92[ASN][1000 genomes]
rs56127349	0.92[ASN][1000 genomes]
rs61642432	0.92[ASN][1000 genomes]
rs73404214	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv914974	chr22:31249333-31279536	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31262000-31272000	Weak transcription	Right Ventricle	heart
2	chr22:31264400-31269400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:31265200-31269600	Weak transcription	Lung	lung
4	chr22:31265200-31271200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr22:31265200-31299400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:31265400-31269400	Strong transcription	NHEK	skin
7	chr22:31265400-31271200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr22:31265400-31271600	Weak transcription	HSMMtube	muscle
9	chr22:31265800-31274000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr22:31266400-31269800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:31266400-31269800	Enhancers	Fetal Lung	lung
12	chr22:31266400-31269800	Strong transcription	Pancreas	Pancrea
13	chr22:31266400-31270800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:31266400-31271000	Strong transcription	Hela-S3	cervix
15	chr22:31266400-31295200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr22:31266600-31269600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:31266600-31269800	Enhancers	Fetal Brain Male	brain
18	chr22:31266800-31269800	Strong transcription	Spleen	Spleen
19	chr22:31267400-31269400	Enhancers	Brain Anterior Caudate	brain
20	chr22:31267800-31269400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr22:31268200-31269600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr22:31268400-31272000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr22:31268600-31269400	Enhancers	Brain Cingulate Gyrus	brain
24	chr22:31268800-31269600	Genic enhancers	Brain Germinal Matrix	brain
25	chr22:31268800-31273600	Weak transcription	Fetal Intestine Small	intestine
26	chr22:31268800-31277200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr22:31269000-31269600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr22:31269000-31271600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr22:31269000-31271800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr22:31269000-31272200	Weak transcription	Placenta	Placenta
31	chr22:31269000-31276800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr22:31269200-31269600	Strong transcription	Brain Hippocampus Middle	brain
33	chr22:31269200-31271800	Weak transcription	Brain Substantia Nigra	brain
34	chr22:31269200-31271800	Weak transcription	Fetal Brain Female	brain
35	chr22:31269200-31272200	Weak transcription	Brain Angular Gyrus	brain
36	chr22:31269200-31272200	Weak transcription	HSMM	muscle
37	chr22:31269200-31277400	Weak transcription	Gastric	stomach
38	chr22:31269400-31270800	Weak transcription	Brain Anterior Caudate	brain
39	chr22:31269400-31271600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr22:31269400-31271800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr22:31269400-31272000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr22:31269400-31284200	Weak transcription	NHEK	skin

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