Variant report

Variant	rs36042418
Chromosome Location	chr2:63990451-63990452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10201844	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11125985	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11125986	0.80[EUR][1000 genomes]
rs12612549	0.91[EUR][1000 genomes]
rs12612596	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12613707	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13384707	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1362797	0.81[EUR][1000 genomes]
rs2054119	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4072113	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4359637	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4399712	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4671526	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4671532	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546025	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6546026	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6546027	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546039	0.82[EUR][1000 genomes]
rs6737855	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9309356	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs998043	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[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	nsv834242	chr2:63891249-64045617	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63973000-63992800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:63976400-64028600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:63985600-63992400	Weak transcription	Psoas Muscle	Psoas
4	chr2:63987000-63991400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:63989800-63990600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:63989800-63993200	Enhancers	NHDF-Ad	bronchial
7	chr2:63990200-63990800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:63990200-63991600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:63990200-63992400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:63990200-63992600	Enhancers	Osteobl	bone
11	chr2:63990200-63992800	Enhancers	NHLF	lung
12	chr2:63990400-63990600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:63990400-63990600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:63990400-63990600	Enhancers	Fetal Muscle Leg	muscle
15	chr2:63990400-63990800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:63990400-63991400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:63990400-63991600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:63990400-63993200	Enhancers	H1 Cell Line	embryonic stem cell

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