Variant report

Variant	rs10495243
Chromosome Location	chr1:226376883-226376884
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1043641	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12402078	0.81[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56381945	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58322813	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58416350	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66520928	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66527714	0.81[AMR][1000 genomes]
rs67431141	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67696165	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72759068	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72759069	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72759098	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9659809	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9662238	0.80[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9727021	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9727329	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv945331	chr1:226374378-226377514	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
3	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv20384	chr1:226375850-226384008	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226375000-226380000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:226375000-226382600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:226375200-226377200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:226375200-226377200	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:226375200-226378000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:226375200-226411000	Weak transcription	Right Atrium	heart
7	chr1:226375400-226377800	Weak transcription	Fetal Lung	lung

Quick Search:

Input of quick search could be:

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

what's new

Quick links