Variant report

Variant	rs1822441
Chromosome Location	chr4:82134736-82134737
allele	G/T
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:47)

rs_ID	r²[population]
rs1400746	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1467206	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1517550	0.86[ASN][1000 genomes]
rs1517553	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1568201	0.85[ASN][1000 genomes]
rs1662837	0.86[ASN][1000 genomes]
rs1662838	0.86[ASN][1000 genomes]
rs1662839	0.85[ASN][1000 genomes]
rs1662840	0.86[ASN][1000 genomes]
rs1662842	0.86[ASN][1000 genomes]
rs1662843	0.86[ASN][1000 genomes]
rs1662844	0.87[ASN][1000 genomes]
rs1662846	0.89[ASN][1000 genomes]
rs1712374	0.87[ASN][1000 genomes]
rs1712379	0.87[ASN][1000 genomes]
rs17427571	1.00[JPT][hapmap]
rs17556750	0.87[ASN][1000 genomes]
rs2044211	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2120301	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2197271	0.86[ASN][1000 genomes]
rs28661028	0.81[ASN][1000 genomes]
rs2868182	0.85[ASN][1000 genomes]
rs3098970	0.86[ASN][1000 genomes]
rs3114136	0.86[ASN][1000 genomes]
rs3114140	0.86[ASN][1000 genomes]
rs56123401	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61104118	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62302272	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62302275	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62302285	0.87[ASN][1000 genomes]
rs62302286	0.86[ASN][1000 genomes]
rs62302305	0.85[ASN][1000 genomes]
rs710835	0.81[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs710838	0.93[ASN][1000 genomes]
rs710839	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs710840	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs710841	0.90[ASN][1000 genomes]
rs7661369	0.86[ASN][1000 genomes]
rs7691253	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs788855	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs788857	0.92[ASN][1000 genomes]
rs788860	0.81[CEU][hapmap]
rs788861	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs788862	0.92[ASN][1000 genomes]
rs788863	0.93[ASN][1000 genomes]
rs788864	0.93[ASN][1000 genomes]
rs994014	0.83[ASN][1000 genomes]

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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1822441	CNOT6L	cis	cerebellum	SCAN
rs1822441	PAQR3	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82126800-82134800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:82132000-82135000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:82132200-82136200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:82132800-82135400	Active TSS	Fetal Intestine Large	intestine
5	chr4:82133200-82136000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:82133600-82134800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:82133600-82135200	Active TSS	Fetal Intestine Small	intestine
8	chr4:82134000-82134800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:82134200-82135400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
10	chr4:82134200-82136600	Active TSS	NHDF-Ad	bronchial
11	chr4:82134400-82137200	Active TSS	NHLF	lung
12	chr4:82134600-82135000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:82134600-82135000	Flanking Active TSS	Fetal Brain Female	brain
14	chr4:82134600-82135200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:82134600-82135800	Bivalent/Poised TSS	Fetal Brain Male	brain
16	chr4:82134600-82137000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links