Variant report

Variant	rs58012939
Chromosome Location	chr1:180520581-180520582
allele	C/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:13)

rs_ID	r²[population]
rs10798776	0.95[ASN][1000 genomes]
rs10914030	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10914031	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10914033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12095304	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339725	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3845398	0.95[ASN][1000 genomes]
rs4651069	0.89[ASN][1000 genomes]
rs4651070	0.95[ASN][1000 genomes]
rs58901111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052310	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514062	0.93[ASN][1000 genomes]
rs7519288	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180510400-180529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:180511800-180521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:180512200-180521200	Weak transcription	HSMMtube	muscle
4	chr1:180513600-180521200	Weak transcription	Right Ventricle	heart
5	chr1:180516400-180520600	Weak transcription	Left Ventricle	heart
6	chr1:180516400-180521200	Weak transcription	Right Atrium	heart
7	chr1:180516600-180536800	Weak transcription	Psoas Muscle	Psoas
8	chr1:180517600-180523200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:180518400-180522600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:180518600-180521200	Weak transcription	Fetal Heart	heart
11	chr1:180519000-180521000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:180519400-180521000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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