Variant report

Variant	rs1812875
Chromosome Location	chr2:211290057-211290058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10195342	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1027901	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1044708	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10804181	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10804182	0.83[EUR][1000 genomes]
rs10804183	0.83[EUR][1000 genomes]
rs11889228	0.83[EUR][1000 genomes]
rs11894867	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11896108	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11900468	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12469589	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12473150	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1350463	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1379838	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2021214	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2287424	0.82[EUR][1000 genomes]
rs2287425	0.83[EUR][1000 genomes]
rs2287429	0.83[EUR][1000 genomes]
rs2287430	0.83[EUR][1000 genomes]
rs2287432	0.83[EUR][1000 genomes]
rs2287433	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2370949	0.83[EUR][1000 genomes]
rs2370956	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2887899	0.83[EUR][1000 genomes]
rs35314871	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3755184	0.86[EUR][1000 genomes]
rs3770689	0.83[EUR][1000 genomes]
rs3770694	0.83[EUR][1000 genomes]
rs3770695	0.83[EUR][1000 genomes]
rs3770699	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3821136	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3845633	0.83[EUR][1000 genomes]
rs3851937	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3856339	0.83[EUR][1000 genomes]
rs3863852	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4102441	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41272663	0.81[ASN][1000 genomes]
rs4467201	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4609985	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4673526	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4673529	0.80[EUR][1000 genomes]
rs6435568	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6435569	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6717228	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6745925	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6756422	0.83[EUR][1000 genomes]
rs725379	0.83[EUR][1000 genomes]
rs7575005	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7578688	0.83[EUR][1000 genomes]
rs7595022	0.83[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	nsv1012567	chr2:211087588-211315554	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv875767	chr2:211119233-211334647	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv3147	chr2:211281479-211326844	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211287000-211291200	Weak transcription	Ovary	ovary
2	chr2:211287000-211292400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:211287000-211294200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:211287200-211291000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:211287200-211292800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:211287200-211298200	Weak transcription	HMEC	breast
7	chr2:211287200-211299200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:211287200-211299600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:211287400-211293000	Weak transcription	HSMMtube	muscle
10	chr2:211287400-211296000	Weak transcription	HSMM	muscle
11	chr2:211287400-211297800	Weak transcription	NH-A	brain
12	chr2:211287800-211292800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:211287800-211295600	Weak transcription	Brain Anterior Caudate	brain
14	chr2:211288400-211296600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:211288800-211290800	Weak transcription	Fetal Heart	heart
16	chr2:211289400-211291000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links