Variant report

Variant	rs12216542
Chromosome Location	chr7:28026355-28026356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs192254	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2107821	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2107822	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs38502	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs38504	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs38507	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs38511	0.83[ASN][1000 genomes]
rs38513	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs38514	0.90[ASN][1000 genomes]
rs38515	0.86[ASN][1000 genomes]
rs38516	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs38517	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:28002800-28034600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:28006400-28031800	Weak transcription	NHDF-Ad	bronchial
3	chr7:28012400-28028000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr7:28013400-28034200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:28015600-28032400	Weak transcription	Ovary	ovary
6	chr7:28017600-28042400	Weak transcription	Aorta	Aorta
7	chr7:28017800-28028000	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:28020000-28032400	Weak transcription	Primary B cells from cord blood	blood
9	chr7:28022400-28026400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:28022400-28028000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:28022400-28031000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:28022400-28036200	Weak transcription	Lung	lung
13	chr7:28026200-28027200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr7:28026200-28027200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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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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