Variant report

Variant	rs12239000
Chromosome Location	chr1:185848602-185848603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185836059..185838961-chr1:185847676..185850629,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10127552	1.00[AFR][1000 genomes]
rs16824676	1.00[CHB][hapmap]
rs28507443	0.91[AFR][1000 genomes]
rs28571005	0.91[AFR][1000 genomes]
rs41317459	1.00[AFR][1000 genomes]
rs57642813	1.00[AFR][1000 genomes]
rs57646071	0.91[AFR][1000 genomes]
rs57647869	0.97[AFR][1000 genomes]
rs61492840	0.91[AFR][1000 genomes]
rs6675790	1.00[AFR][1000 genomes]
rs6686746	0.89[AFR][1000 genomes]
rs6689228	0.87[YRI][hapmap]
rs6689317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701269	0.89[AFR][1000 genomes]
rs6701921	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6703750	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs73054405	0.97[AFR][1000 genomes]
rs73054410	0.97[AFR][1000 genomes]
rs73054419	1.00[AFR][1000 genomes]
rs73054444	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73054452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73054473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73058244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73058248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73058365	0.80[AFR][1000 genomes]
rs73058381	0.91[AFR][1000 genomes]
rs73058389	0.86[AFR][1000 genomes]
rs73060472	0.91[AFR][1000 genomes]
rs73060496	0.91[AFR][1000 genomes]
rs73062176	1.00[AMR][1000 genomes]
rs73062507	0.91[AFR][1000 genomes]
rs73070566	0.91[AFR][1000 genomes]
rs73070580	0.91[AFR][1000 genomes]
rs73070588	0.86[AFR][1000 genomes]
rs73070592	0.91[AFR][1000 genomes]
rs73070595	0.91[AFR][1000 genomes]
rs73072044	0.91[AFR][1000 genomes]
rs73072053	0.91[AFR][1000 genomes]
rs73072054	0.91[AFR][1000 genomes]
rs73072072	0.97[AFR][1000 genomes]
rs73072073	0.97[AFR][1000 genomes]
rs9727715	0.91[AFR][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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr1:185803200-185850000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185838800-185849000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:185847800-185850400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:185848200-185849000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:185848200-185850600	Enhancers	Aorta	Aorta
6	chr1:185848400-185849000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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