Variant report

Variant	rs26991
Chromosome Location	chr5:112788540-112788541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112782163..112784363-chr5:112787985..112789693,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10040430	0.82[AMR][1000 genomes]
rs10046057	0.89[YRI][hapmap];0.81[AMR][1000 genomes]
rs11241210	0.81[AMR][1000 genomes]
rs11750449	0.81[AMR][1000 genomes]
rs12519315	0.90[CEU][hapmap]
rs12523145	0.96[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12659978	0.82[JPT][hapmap]
rs1820056	0.82[JPT][hapmap]
rs2248930	0.89[YRI][hapmap]
rs255879	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28848005	0.81[AMR][1000 genomes]
rs2910018	0.87[JPT][hapmap]
rs348928	0.89[YRI][hapmap]
rs348929	0.83[YRI][hapmap]
rs348932	0.88[YRI][hapmap]
rs348938	0.89[YRI][hapmap]
rs348947	0.89[YRI][hapmap]
rs348956	0.89[YRI][hapmap]
rs348961	0.89[YRI][hapmap]
rs348962	0.89[YRI][hapmap]
rs348963	0.89[YRI][hapmap]
rs367943	0.89[YRI][hapmap]
rs3842917	0.88[YRI][hapmap];0.89[AMR][1000 genomes]
rs4415069	0.82[JPT][hapmap]
rs444322	0.89[YRI][hapmap]
rs455435	0.89[YRI][hapmap]
rs463167	0.89[YRI][hapmap]
rs463249	0.89[YRI][hapmap]
rs4639215	0.82[JPT][hapmap]
rs4705821	0.82[CHB][hapmap];0.89[YRI][hapmap]
rs4705823	0.87[YRI][hapmap];0.87[AMR][1000 genomes]
rs4705830	0.82[JPT][hapmap]
rs644154	0.89[YRI][hapmap]
rs6594718	0.83[YRI][hapmap];0.90[AMR][1000 genomes]
rs6594719	0.88[AMR][1000 genomes]
rs6594720	0.89[AMR][1000 genomes]
rs6594721	0.89[YRI][hapmap];0.81[AMR][1000 genomes]
rs6594735	0.84[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6876448	0.81[AMR][1000 genomes]
rs6880447	0.81[AMR][1000 genomes]
rs6881976	0.82[JPT][hapmap]
rs6886199	0.84[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs6887816	0.92[YRI][hapmap];0.81[AMR][1000 genomes]
rs7706796	0.89[AMR][1000 genomes]
rs7709110	0.91[CHB][hapmap];0.83[CHD][hapmap];0.89[YRI][hapmap]
rs7730801	0.82[CHB][hapmap];0.85[YRI][hapmap]
rs9326895	0.82[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112782200-112789600	Enhancers	Fetal Stomach	stomach
2	chr5:112786200-112810000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:112786600-112790800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:112788000-112794200	Weak transcription	NHEK	skin
5	chr5:112788000-112808000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:112788200-112807600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links