Variant report

Variant	rs11913790
Chromosome Location	chr22:31265848-31265849
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	chr22:31264858..31267090-chr22:31269801..31273522,3	K562	blood:
2	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]
rs41279973	1.00[ASN][1000 genomes]
rs4820893	1.00[ASN][1000 genomes]
rs5753431	1.00[ASN][1000 genomes]
rs5997854	1.00[ASN][1000 genomes]
rs714023	1.00[ASN][1000 genomes]
rs7285842	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285906	1.00[ASN][1000 genomes]
rs73404214	0.81[EUR][1000 genomes]
rs9621105	0.81[EUR][1000 genomes];1.00[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31256000-31266400	Weak transcription	Hela-S3	cervix
2	chr22:31258000-31266400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:31259800-31266200	Weak transcription	Placenta	Placenta
4	chr22:31259800-31266400	Weak transcription	Pancreas	Pancrea
5	chr22:31260600-31266600	Weak transcription	Fetal Intestine Small	intestine
6	chr22:31262000-31272000	Weak transcription	Right Ventricle	heart
7	chr22:31263400-31266000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr22:31264000-31268200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr22:31264400-31269400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:31264600-31268400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr22:31264800-31266400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr22:31264800-31266400	Weak transcription	Gastric	stomach
13	chr22:31264800-31266600	Weak transcription	Fetal Brain Male	brain
14	chr22:31265200-31266400	Weak transcription	Brain Germinal Matrix	brain
15	chr22:31265200-31266600	Weak transcription	Ovary	ovary
16	chr22:31265200-31269600	Weak transcription	Lung	lung
17	chr22:31265200-31271200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr22:31265200-31299400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:31265400-31266200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr22:31265400-31266200	Weak transcription	Spleen	Spleen
21	chr22:31265400-31266400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:31265400-31266400	Weak transcription	Fetal Lung	lung
23	chr22:31265400-31266600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:31265400-31267600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:31265400-31269400	Strong transcription	NHEK	skin
26	chr22:31265400-31271200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr22:31265400-31271600	Weak transcription	HSMMtube	muscle
28	chr22:31265600-31266400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr22:31265600-31266400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr22:31265600-31266400	Weak transcription	Fetal Brain Female	brain
31	chr22:31265600-31266600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr22:31265600-31267400	Weak transcription	Brain Anterior Caudate	brain
33	chr22:31265600-31267400	Weak transcription	Brain Substantia Nigra	brain
34	chr22:31265600-31267600	Weak transcription	Brain Angular Gyrus	brain
35	chr22:31265600-31268600	Weak transcription	HSMM	muscle
36	chr22:31265800-31266200	Weak transcription	Brain Hippocampus Middle	brain
37	chr22:31265800-31267800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr22:31265800-31274000	Weak transcription	Muscle Satellite Cultured Cells	--

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