Variant report

Variant	rs61243353
Chromosome Location	chr4:124765034-124765035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11731103	0.81[ASN][1000 genomes]
rs1368506	0.81[ASN][1000 genomes]
rs17007477	0.83[EUR][1000 genomes]
rs58194546	0.81[ASN][1000 genomes]
rs62321834	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66477141	0.83[EUR][1000 genomes]
rs66622763	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66822580	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68018489	0.81[ASN][1000 genomes]
rs72670599	0.83[ASN][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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2754745	chr4:124698055-124770865	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124752400-124769000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:124758400-124769000	Weak transcription	Left Ventricle	heart
3	chr4:124758600-124765400	Weak transcription	Fetal Intestine Small	intestine
4	chr4:124763000-124771000	Weak transcription	Aorta	Aorta
5	chr4:124763200-124765200	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:124764000-124765200	Enhancers	NHDF-Ad	bronchial
7	chr4:124764200-124765200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:124764200-124765200	Enhancers	NHLF	lung
9	chr4:124764200-124770400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:124764400-124765400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:124764400-124770400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:124764600-124769800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:124765000-124765400	Weak transcription	H1 BMP4 Derived Trophoblast 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