Variant report

Variant	rs1443543
Chromosome Location	chr4:82177462-82177463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10017744	0.84[EUR][1000 genomes]
rs11099465	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11727754	0.84[EUR][1000 genomes]
rs11731567	0.85[EUR][1000 genomes]
rs11733845	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11939135	0.85[EUR][1000 genomes]
rs11942269	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13435660	0.84[EUR][1000 genomes]
rs1349641	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1443542	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1452364	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1452366	0.80[CEU][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes]
rs1452367	0.99[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1662845	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1712387	0.88[ASN][1000 genomes]
rs17428153	0.80[EUR][1000 genomes]
rs17499131	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17500037	0.80[EUR][1000 genomes]
rs1993160	0.85[EUR][1000 genomes]
rs2034628	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2034630	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2041461	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2058367	0.85[EUR][1000 genomes]
rs2159656	0.99[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3114135	1.00[JPT][hapmap]
rs4693234	0.90[AMR][1000 genomes]
rs4693996	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4694006	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6535242	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6535243	0.82[EUR][1000 genomes]
rs6814785	0.84[EUR][1000 genomes]
rs6819909	0.84[EUR][1000 genomes]
rs6831114	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6839968	0.96[CEU][hapmap];0.91[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7654102	0.85[EUR][1000 genomes]
rs7660089	0.80[EUR][1000 genomes]
rs7664953	0.85[EUR][1000 genomes]
rs7669131	0.85[EUR][1000 genomes]
rs7673578	0.85[EUR][1000 genomes]
rs7677239	0.85[EUR][1000 genomes]
rs7680637	0.90[AMR][1000 genomes]
rs7681976	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7685645	0.87[AMR][1000 genomes]
rs9307782	0.80[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1443543	PRKG2	cis	Nerve Tibial	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82174800-82178800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:82175000-82183400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:82175600-82179200	Enhancers	NHDF-Ad	bronchial
4	chr4:82175800-82179200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:82175800-82179600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:82176200-82178800	Enhancers	NHLF	lung
7	chr4:82176200-82181200	Enhancers	Fetal Intestine Large	intestine
8	chr4:82176800-82177600	Enhancers	Fetal Lung	lung
9	chr4:82176800-82178000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:82176800-82178200	Enhancers	A549	lung
11	chr4:82176800-82181800	Enhancers	Fetal Intestine Small	intestine
12	chr4:82177000-82179000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:82177000-82179000	Enhancers	NH-A	brain
14	chr4:82177000-82179600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:82177200-82177800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:82177200-82178000	Enhancers	Osteobl	bone
17	chr4:82177200-82179000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:82177200-82179200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:82177400-82177600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr4:82177400-82178000	Enhancers	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links