Variant report

Variant	rs59281677
Chromosome Location	chr2:31508856-31508857
allele	G/T
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]
rs10178948	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10179054	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10183709	0.86[AMR][1000 genomes]
rs10183716	0.86[AMR][1000 genomes]
rs10187343	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs13391292	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs13391297	0.94[AFR][1000 genomes]
rs13398126	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs13405627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57997844	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs59556133	1.00[EUR][1000 genomes]
rs603214	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60638976	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6543623	0.86[AMR][1000 genomes]
rs6543624	0.86[AMR][1000 genomes]
rs73925235	0.86[AMR][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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31486600-31510000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:31492800-31510600	Weak transcription	Aorta	Aorta
3	chr2:31495800-31509800	Weak transcription	Esophagus	oesophagus
4	chr2:31497000-31510400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:31504600-31512800	Enhancers	Placenta	Placenta
6	chr2:31506200-31509000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:31506200-31510000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:31507400-31511000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:31507600-31510200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:31507800-31510600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:31508200-31509400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:31508400-31509400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:31508800-31511200	Enhancers	NHEK	skin
14	chr2:31508800-31511600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:31508800-31511600	Enhancers	HUVEC	blood vessel

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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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