Variant report

Variant	rs7289229
Chromosome Location	chr22:31267719-31267720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31260328..31263465-chr22:31265387..31269204,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11912801	1.00[AMR][1000 genomes]
rs11914180	1.00[AMR][1000 genomes]
rs56305932	1.00[AMR][1000 genomes]
rs58922136	1.00[AMR][1000 genomes]
rs60487986	1.00[AMR][1000 genomes]
rs61688449	1.00[AMR][1000 genomes]
rs7289693	0.85[AFR][1000 genomes]
rs73400354	1.00[AMR][1000 genomes]
rs73884436	1.00[AMR][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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31262000-31272000	Weak transcription	Right Ventricle	heart
2	chr22:31264000-31268200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr22:31264400-31269400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:31264600-31268400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:31265200-31269600	Weak transcription	Lung	lung
6	chr22:31265200-31271200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr22:31265200-31299400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:31265400-31269400	Strong transcription	NHEK	skin
9	chr22:31265400-31271200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr22:31265400-31271600	Weak transcription	HSMMtube	muscle
11	chr22:31265600-31268600	Weak transcription	HSMM	muscle
12	chr22:31265800-31267800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr22:31265800-31274000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr22:31266200-31268000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:31266400-31267800	Strong transcription	Brain Cingulate Gyrus	brain
16	chr22:31266400-31267800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:31266400-31268400	Genic enhancers	Brain Germinal Matrix	brain
18	chr22:31266400-31269200	Strong transcription	Gastric	stomach
19	chr22:31266400-31269800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr22:31266400-31269800	Enhancers	Fetal Lung	lung
21	chr22:31266400-31269800	Strong transcription	Pancreas	Pancrea
22	chr22:31266400-31270800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:31266400-31271000	Strong transcription	Hela-S3	cervix
24	chr22:31266400-31295200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr22:31266600-31267800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:31266600-31268800	Strong transcription	Fetal Intestine Small	intestine
27	chr22:31266600-31269600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr22:31266600-31269800	Enhancers	Fetal Brain Male	brain
29	chr22:31266800-31267800	Weak transcription	Placenta	Placenta
30	chr22:31266800-31269800	Strong transcription	Spleen	Spleen
31	chr22:31267200-31267800	Weak transcription	Fetal Brain Female	brain
32	chr22:31267400-31269000	Genic enhancers	Brain Inferior Temporal Lobe	brain
33	chr22:31267400-31269200	Enhancers	Brain Substantia Nigra	brain
34	chr22:31267400-31269400	Enhancers	Brain Anterior Caudate	brain
35	chr22:31267600-31268400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:31267600-31269200	Enhancers	Brain Angular Gyrus	brain
37	chr22:31267600-31269200	Genic enhancers	Brain Hippocampus Middle	brain
38	chr22:31267600-31269200	Enhancers	K562	blood

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