Variant report

Variant	rs57611740
Chromosome Location	chr1:180627761-180627762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs55846815	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56150326	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56248351	1.00[AMR][1000 genomes]
rs57076921	1.00[AMR][1000 genomes]
rs58167853	1.00[AMR][1000 genomes]
rs58263443	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133000	1.00[AMR][1000 genomes]
rs74135803	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74135814	1.00[AMR][1000 genomes]
rs74135816	1.00[AMR][1000 genomes]
rs74135829	1.00[AMR][1000 genomes]
rs74135834	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	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	chr1:180602000-180645200	Weak transcription	Gastric	stomach
2	chr1:180613200-180632600	Weak transcription	Aorta	Aorta
3	chr1:180619600-180632600	Weak transcription	Pancreas	Pancrea
4	chr1:180619600-180634600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:180625800-180634800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:180626400-180627800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr1:180627000-180627800	ZNF genes & repeats	Fetal Lung	lung
8	chr1:180627200-180627800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr1:180627200-180628200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:180627400-180627800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:180627600-180632800	Weak transcription	A549	lung
12	chr1:180627600-180640000	Weak transcription	Fetal Heart	heart

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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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