Variant report

Variant	rs8139321
Chromosome Location	chr22:31126694-31126695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31125004..31127534-chr22:31130840..31132394,2	K562	blood:
2	chr22:31124952..31127381-chr22:31127811..31130663,2	K562	blood:
3	chr22:31063275..31065151-chr22:31126656..31129232,2	K562	blood:

Variant related genes	Relation type
ENSG00000167065	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11912793	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11912801	0.85[AFR][1000 genomes]
rs11913730	1.00[AMR][1000 genomes]
rs16988993	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35941285	1.00[AMR][1000 genomes]
rs57114503	1.00[AMR][1000 genomes]
rs6518714	1.00[AMR][1000 genomes]
rs7287698	1.00[AMR][1000 genomes]
rs73400353	1.00[AMR][1000 genomes]
rs73400355	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400364	1.00[AMR][1000 genomes]
rs73400370	1.00[AMR][1000 genomes]
rs73400382	1.00[AMR][1000 genomes]
rs8137597	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8138072	1.00[AMR][1000 genomes]
rs8143079	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31113800-31132800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr22:31114000-31140600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr22:31115200-31128800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr22:31115400-31128800	Weak transcription	NHDF-Ad	bronchial
5	chr22:31115600-31149400	Weak transcription	Brain Hippocampus Middle	brain
6	chr22:31116400-31127600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr22:31116400-31128400	Weak transcription	Brain Substantia Nigra	brain
8	chr22:31117000-31127200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr22:31117000-31140200	Weak transcription	Pancreas	Pancrea
10	chr22:31118200-31127200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr22:31118200-31128600	Weak transcription	Brain Angular Gyrus	brain
12	chr22:31118200-31128600	Weak transcription	Brain Anterior Caudate	brain
13	chr22:31118400-31138600	Weak transcription	Fetal Brain Female	brain
14	chr22:31120800-31128600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr22:31123000-31137200	Weak transcription	Gastric	stomach
16	chr22:31123600-31131200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr22:31125400-31131200	Weak transcription	Fetal Intestine Small	intestine
18	chr22:31126200-31130600	Enhancers	HUVEC	blood vessel
19	chr22:31126400-31126800	Enhancers	HSMM	muscle
20	chr22:31126400-31129800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:31126600-31127000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr22:31126600-31128800	Weak transcription	NH-A	brain
23	chr22:31126600-31129200	Weak transcription	GM12878-XiMat	blood
24	chr22:31126600-31136200	Weak transcription	K562	blood

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