Variant report

Variant	rs2358815
Chromosome Location	chr1:114604124-114604125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11800745	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801865	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804232	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11806058	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17032172	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17032177	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17032183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17531753	1.00[ASN][1000 genomes]
rs59460174	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73002076	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs950779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv463284	chr1:114585590-114623867	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv547568	chr1:114585590-114623867	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv547569	chr1:114587766-114625425	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114597200-114605600	Weak transcription	Fetal Kidney	kidney
2	chr1:114597200-114614600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:114602200-114604600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:114603000-114604200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:114603600-114604600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:114603600-114604600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:114603600-114604600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:114603600-114605200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:114604000-114604600	Enhancers	HMEC	breast

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

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