Variant report

Variant	rs12483846
Chromosome Location	chr22:31120714-31120715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1040422	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11913875	0.90[ASN][1000 genomes]
rs12484930	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13053993	0.80[ASN][1000 genomes]
rs136337	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs136339	0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs136343	0.81[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs136344	0.81[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs136345	0.81[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs136348	0.80[ASN][1000 genomes]
rs136351	0.84[ASN][1000 genomes]
rs136354	0.86[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs136355	0.85[ASN][1000 genomes]
rs136356	0.81[ASN][1000 genomes]
rs136379	0.83[ASN][1000 genomes]
rs136380	0.92[ASN][1000 genomes]
rs136383	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs136388	0.86[ASN][1000 genomes]
rs4820897	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4820899	0.86[ASN][1000 genomes]
rs55765123	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5749156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749157	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749161	0.87[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs5753280	0.92[AMR][1000 genomes]
rs5753281	0.85[CHB][hapmap];0.84[JPT][hapmap];0.94[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5753284	0.81[ASN][1000 genomes]
rs5753285	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753287	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753290	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753292	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753294	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753297	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753298	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5753299	0.81[ASN][1000 genomes]
rs5753300	0.85[ASN][1000 genomes]
rs58467547	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5997737	0.86[ASN][1000 genomes]
rs61537428	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62235882	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62235883	0.84[AMR][1000 genomes]
rs62235892	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7292017	0.90[ASN][1000 genomes]
rs8141331	0.91[AMR][1000 genomes]
rs8184976	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs909705	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs926340	0.84[ASN][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:18 , 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	chr22:31114200-31123000	Weak transcription	HUVEC	blood vessel
4	chr22:31115200-31128800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr22:31115400-31126400	Weak transcription	HSMM	muscle
6	chr22:31115400-31128800	Weak transcription	NHDF-Ad	bronchial
7	chr22:31115600-31149400	Weak transcription	Brain Hippocampus Middle	brain
8	chr22:31116400-31127600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr22:31116400-31128400	Weak transcription	Brain Substantia Nigra	brain
10	chr22:31117000-31126400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr22:31117000-31127200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr22:31117000-31140200	Weak transcription	Pancreas	Pancrea
13	chr22:31118200-31127200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr22:31118200-31128600	Weak transcription	Brain Angular Gyrus	brain
15	chr22:31118200-31128600	Weak transcription	Brain Anterior Caudate	brain
16	chr22:31118400-31138600	Weak transcription	Fetal Brain Female	brain
17	chr22:31119000-31121000	Weak transcription	Fetal Brain Male	brain
18	chr22:31120600-31120800	Enhancers	Brain Inferior Temporal Lobe	brain

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