Variant report

Variant	rs72477395
Chromosome Location	chr1:152382493-152382494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13375665	1.00[ASN][1000 genomes]
rs16833966	1.00[ASN][1000 genomes]
rs16834012	1.00[ASN][1000 genomes]
rs17359691	1.00[ASN][1000 genomes]
rs1858481	0.83[ASN][1000 genomes]
rs28726673	0.83[ASN][1000 genomes]
rs3126090	0.83[ASN][1000 genomes]
rs3126093	0.83[ASN][1000 genomes]
rs3134871	0.83[ASN][1000 genomes]
rs3134873	0.83[ASN][1000 genomes]
rs72477389	1.00[AFR][1000 genomes]
rs72477390	1.00[AFR][1000 genomes]
rs7354940	1.00[ASN][1000 genomes]
rs7536684	0.83[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	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv916016	chr1:152337775-152590520	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv516541	chr1:152376710-152390452	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152380600-152383000	Weak transcription	Fetal Lung	lung
2	chr1:152381000-152385800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:152382000-152383000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:152382000-152383200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:152382200-152384800	Enhancers	Spleen	Spleen
6	chr1:152382200-152385600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:152382400-152382800	Genic enhancers	Esophagus	oesophagus
8	chr1:152382400-152383000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr1:152382400-152383400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:152382400-152383800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:152382400-152385600	Enhancers	Pancreas	Pancrea

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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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