Variant report

Variant	rs136380
Chromosome Location	chr22:31116753-31116754
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11913875	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12483846	0.92[ASN][1000 genomes]
rs12484930	0.92[ASN][1000 genomes]
rs13053993	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs136337	0.91[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs136339	0.83[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs136340	0.83[ASN][1000 genomes]
rs136343	0.91[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs136344	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs136345	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs136346	0.85[ASN][1000 genomes]
rs136348	0.87[ASN][1000 genomes]
rs136351	0.86[ASN][1000 genomes]
rs136354	0.87[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.86[ASN][1000 genomes]
rs136355	0.86[ASN][1000 genomes]
rs136356	0.87[ASN][1000 genomes]
rs136369	0.80[YRI][hapmap]
rs136379	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs136383	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs136388	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4820025	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4820897	0.89[ASN][1000 genomes]
rs4820899	0.87[ASN][1000 genomes]
rs55765123	0.94[ASN][1000 genomes]
rs5749156	0.94[ASN][1000 genomes]
rs5749157	0.98[ASN][1000 genomes]
rs5749161	0.87[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs5753281	0.86[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs5753284	0.89[ASN][1000 genomes]
rs5753285	0.99[ASN][1000 genomes]
rs5753287	0.94[ASN][1000 genomes]
rs5753290	0.95[ASN][1000 genomes]
rs5753292	0.96[ASN][1000 genomes]
rs5753294	0.97[ASN][1000 genomes]
rs5753295	0.97[ASN][1000 genomes]
rs5753297	0.97[ASN][1000 genomes]
rs5753298	0.81[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs5753299	0.82[ASN][1000 genomes]
rs5753300	0.86[ASN][1000 genomes]
rs58467547	0.83[ASN][1000 genomes]
rs5997737	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61537428	0.98[ASN][1000 genomes]
rs62235882	0.92[ASN][1000 genomes]
rs62235892	0.94[ASN][1000 genomes]
rs7292017	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8184976	0.98[ASN][1000 genomes]
rs909705	0.96[ASN][1000 genomes]
rs926340	0.86[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
rs136380	TFIP11	cis	cerebellum	SCAN
rs136380	DUSP18	cis	multi-tissue	Pritchard

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31112600-31117000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr22:31113800-31132800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr22:31114000-31140600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr22:31114200-31118000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr22:31114200-31123000	Weak transcription	HUVEC	blood vessel
6	chr22:31114800-31118200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:31115200-31128800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:31115400-31117200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr22:31115400-31126400	Weak transcription	HSMM	muscle
10	chr22:31115400-31128800	Weak transcription	NHDF-Ad	bronchial
11	chr22:31115600-31149400	Weak transcription	Brain Hippocampus Middle	brain
12	chr22:31115800-31117000	Enhancers	K562	blood
13	chr22:31116000-31116800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr22:31116000-31119000	Enhancers	Fetal Brain Male	brain
15	chr22:31116200-31116800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr22:31116200-31117000	Enhancers	Pancreas	Pancrea
17	chr22:31116400-31118200	Enhancers	Brain Anterior Caudate	brain
18	chr22:31116400-31127600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr22:31116400-31128400	Weak transcription	Brain Substantia Nigra	brain
20	chr22:31116600-31117400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr22:31116600-31117400	Weak transcription	Spleen	Spleen
22	chr22:31116600-31118200	Enhancers	Brain Angular Gyrus	brain

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