Variant report

Variant	rs2287599
Chromosome Location	chr2:211481257-211481258
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10165443	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10184633	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10191702	0.83[EUR][1000 genomes]
rs1047883	0.82[CEU][hapmap]
rs10804186	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs11685955	0.89[EUR][1000 genomes]
rs12694202	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs12694203	0.85[CEU][hapmap];0.81[AMR][1000 genomes]
rs12694204	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12694205	0.82[EUR][1000 genomes]
rs12694206	0.82[EUR][1000 genomes]
rs2229589	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2302910	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2370997	0.82[CEU][hapmap]
rs2370998	0.82[CEU][hapmap]
rs2371000	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2371002	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4312427	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs4396646	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4399666	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs6435578	0.81[AMR][1000 genomes]
rs6721477	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6734696	0.85[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7573258	0.85[CEU][hapmap];0.80[AMR][1000 genomes]
rs7582951	0.83[AMR][1000 genomes]
rs7583822	0.83[AMR][1000 genomes]
rs7587701	0.82[EUR][1000 genomes]
rs7587791	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs7593211	0.83[EUR][1000 genomes]
rs7598448	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1013658	chr2:211447246-211809945	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv536135	chr2:211447246-211809945	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2287599	CPS1	cis	Adipose Subcutaneous	GTEx
rs2287599	CPS1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211442400-211484200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:211450200-211481400	Strong transcription	Duodenum Mucosa	Duodenum
3	chr2:211458600-211485000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:211467200-211482000	Weak transcription	HepG2	liver
5	chr2:211471800-211494000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:211474400-211485000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:211474800-211482800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:211477200-211481600	Strong transcription	Fetal Intestine Large	intestine
9	chr2:211477800-211483400	Genic enhancers	Liver	Liver
10	chr2:211479000-211482200	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:211479400-211482200	Weak transcription	Hela-S3	cervix
12	chr2:211480600-211481400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:211480600-211481400	Enhancers	Colon Smooth Muscle	Colon
14	chr2:211480800-211481400	Enhancers	Aorta	Aorta
15	chr2:211481000-211481400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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