Variant report

Variant	rs136218
Chromosome Location	chr22:31230393-31230394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs136225	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs136303	0.89[EUR][1000 genomes]
rs136369	0.85[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv588888	chr22:31212641-31249333	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs136218	CCDC157	cis	parietal	SCAN
rs136218	DUSP18	cis	multi-tissue	Pritchard
rs136218	DUSP18	cis	Whole Blood	GTEx
rs136218	CTA-963H5.5	cis	Whole Blood	GTEx
rs136218	DUSP18	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31226800-31233200	Weak transcription	Fetal Brain Male	brain
2	chr22:31227200-31232600	Weak transcription	Brain Angular Gyrus	brain
3	chr22:31227400-31232400	Weak transcription	Brain Anterior Caudate	brain
4	chr22:31227400-31233400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:31227600-31230400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr22:31227600-31232200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr22:31227600-31232200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:31227600-31232400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:31227800-31233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr22:31228000-31233600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:31228200-31232200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr22:31228200-31233600	Weak transcription	HMEC	breast
13	chr22:31228200-31233600	Weak transcription	NHDF-Ad	bronchial
14	chr22:31229400-31238800	Weak transcription	HSMM	muscle
15	chr22:31229600-31231800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr22:31229600-31232200	Weak transcription	A549	lung
17	chr22:31229800-31231400	Weak transcription	NHEK	skin
18	chr22:31229800-31233000	Genic enhancers	Hela-S3	cervix

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links