Variant report

Variant	rs136378
Chromosome Location	chr22:31118383-31118384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11912792	1.00[ASN][1000 genomes]
rs13053290	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13053933	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13055490	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13055538	1.00[ASN][1000 genomes]
rs13056984	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13433567	1.00[ASN][1000 genomes]
rs136303	0.82[EUR][1000 genomes]
rs136354	1.00[YRI][hapmap]
rs136369	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs136370	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs136371	0.84[EUR][1000 genomes]
rs136372	0.84[EUR][1000 genomes]
rs136373	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs136376	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs136377	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs136381	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs136382	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs136385	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs136386	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs136390	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28360580	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28672875	1.00[ASN][1000 genomes]
rs34360174	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34779325	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34944552	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34961431	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35137429	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35384996	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35613453	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4820895	0.85[AMR][1000 genomes]
rs5994332	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7288635	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7290980	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9621096	1.00[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs136378	DUSP18	cis	Whole Blood	GTEx
rs136378	CTA-963H5.5	cis	Whole Blood	GTEx

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	chr22:31116000-31119000	Enhancers	Fetal Brain Male	brain
9	chr22:31116400-31127600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr22:31116400-31128400	Weak transcription	Brain Substantia Nigra	brain
11	chr22:31117000-31126400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr22:31117000-31127200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr22:31117000-31140200	Weak transcription	Pancreas	Pancrea
14	chr22:31117200-31118400	Enhancers	Fetal Brain Female	brain
15	chr22:31118200-31120000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr22:31118200-31127200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr22:31118200-31128600	Weak transcription	Brain Angular Gyrus	brain
18	chr22:31118200-31128600	Weak transcription	Brain Anterior Caudate	brain

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