Variant report

Variant	rs57010239
Chromosome Location	chr1:119632558-119632559
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1341799	1.00[AMR][1000 genomes]
rs17023397	1.00[AMR][1000 genomes]
rs17023399	1.00[AMR][1000 genomes]
rs17023406	1.00[AMR][1000 genomes]
rs17023407	1.00[AMR][1000 genomes]
rs2799759	1.00[AMR][1000 genomes]
rs4514280	1.00[AMR][1000 genomes]
rs4659155	1.00[AMR][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	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 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	chr1:119587800-119634200	Weak transcription	Left Ventricle	heart
2	chr1:119606800-119633200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:119606800-119634200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:119619600-119634400	Weak transcription	Hela-S3	cervix
5	chr1:119624000-119642400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:119624200-119640200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:119624800-119636000	Weak transcription	HSMM	muscle
8	chr1:119627200-119634400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:119628000-119634200	Weak transcription	Ovary	ovary
10	chr1:119628000-119634200	Weak transcription	Pancreas	Pancrea
11	chr1:119628200-119634200	Weak transcription	Aorta	Aorta
12	chr1:119629600-119634200	Weak transcription	Psoas Muscle	Psoas
13	chr1:119630600-119640200	Weak transcription	H1 Cell Line	embryonic stem cell

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

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