Variant report

Variant	rs1124377
Chromosome Location	chr1:226949569-226949570
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12072939	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12735680	0.90[AMR][1000 genomes]
rs16846452	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16846458	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16846461	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16846464	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16846466	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754413	0.83[AMR][1000 genomes]
rs3754417	0.80[AMR][1000 genomes]
rs3768416	0.83[AMR][1000 genomes]
rs3820647	0.80[AMR][1000 genomes]
rs41490347	0.90[AMR][1000 genomes]
rs4653464	0.83[AMR][1000 genomes]
rs4653769	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4653770	0.90[AMR][1000 genomes]
rs56095953	0.83[AMR][1000 genomes]
rs59173465	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs835653	0.90[AMR][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	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226942000-226950200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:226943800-226951200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:226944800-226951400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:226945000-226951600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:226947800-226954000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:226948800-226950400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:226949000-226952600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:226949200-226950200	Weak transcription	GM12878-XiMat	blood
9	chr1:226949200-226950800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:226949200-226957400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:226949400-226950800	Enhancers	Hela-S3	cervix
12	chr1:226949400-226951400	Enhancers	NHEK	skin
13	chr1:226949400-226951600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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