Variant report

Variant	rs12753447
Chromosome Location	chr1:209493528-209493529
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10494922	0.86[ASN][1000 genomes]
rs11586524	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1395748	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17014326	0.81[EUR][1000 genomes]
rs1876409	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2246571	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2247066	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2254757	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2456811	0.82[ASN][1000 genomes]
rs2660634	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2660638	0.81[EUR][1000 genomes]
rs2660641	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2800929	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2843167	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs879961	0.85[ASN][1000 genomes]
rs906353	0.85[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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209492400-209493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:209492800-209497200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:209493000-209498600	Weak transcription	Fetal Brain Male	brain
4	chr1:209493200-209496600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:209493200-209500200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:209493400-209496600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:209493400-209496600	Weak transcription	HMEC	breast
8	chr1:209493400-209496600	Weak transcription	NHEK	skin
9	chr1:209493400-209496800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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

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