Variant report

Variant	rs11120627
Chromosome Location	chr1:215951543-215951544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10159207	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10864196	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11120625	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11120626	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11120629	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095085	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12122219	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12123259	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6540909	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6540910	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6687309	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6696319	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7533099	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7549052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv949671	chr1:215942740-216120815	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr1:215948600-215952400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:215949800-215958600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:215950000-215956200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:215950200-215952200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:215950600-215951600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:215951200-215958600	Weak transcription	NHDF-Ad	bronchial

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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