Variant report

Variant	rs8143079
Chromosome Location	chr22:31117430-31117431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11912793	1.00[AMR][1000 genomes]
rs11913730	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13053186	0.88[AFR][1000 genomes]
rs16988993	1.00[AMR][1000 genomes]
rs35941285	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56348572	0.95[AFR][1000 genomes]
rs57114503	1.00[AMR][1000 genomes]
rs6518714	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7287698	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400344	0.93[AFR][1000 genomes]
rs73400346	0.98[AFR][1000 genomes]
rs73400353	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400355	1.00[AMR][1000 genomes]
rs73400364	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400370	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400382	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8137597	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8138072	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8139321	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:21 , 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	chr22:31114200-31118000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr22:31114200-31123000	Weak transcription	HUVEC	blood vessel
5	chr22:31114800-31118200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:31115200-31128800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:31115400-31126400	Weak transcription	HSMM	muscle
8	chr22:31115400-31128800	Weak transcription	NHDF-Ad	bronchial
9	chr22:31115600-31149400	Weak transcription	Brain Hippocampus Middle	brain
10	chr22:31116000-31119000	Enhancers	Fetal Brain Male	brain
11	chr22:31116400-31118200	Enhancers	Brain Anterior Caudate	brain
12	chr22:31116400-31127600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr22:31116400-31128400	Weak transcription	Brain Substantia Nigra	brain
14	chr22:31116600-31118200	Enhancers	Brain Angular Gyrus	brain
15	chr22:31117000-31126400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr22:31117000-31127200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr22:31117000-31140200	Weak transcription	Pancreas	Pancrea
18	chr22:31117200-31118200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr22:31117200-31118400	Enhancers	Fetal Brain Female	brain
20	chr22:31117400-31117600	Enhancers	Spleen	Spleen
21	chr22:31117400-31118200	Enhancers	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links