Variant report

Variant	rs12586249
Chromosome Location	chr14:81701004-81701005
allele	C/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]
rs17111601	0.83[AMR][1000 genomes]
rs1864169	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1951616	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1957546	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2288498	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4640110	0.86[EUR][1000 genomes]
rs4899786	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7142641	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7144005	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7148100	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8006036	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8009888	0.80[AMR][1000 genomes]
rs8010219	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8014406	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8016352	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9806020	0.96[AMR][1000 genomes];0.95[EUR][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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv902118	chr14:81679650-81715989	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81688200-81704800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:81700000-81701400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:81700400-81701200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:81700400-81701200	Enhancers	Fetal Heart	heart
5	chr14:81700400-81701200	Enhancers	HSMM	muscle
6	chr14:81700400-81701400	Enhancers	Fetal Lung	lung
7	chr14:81700400-81701600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr14:81700400-81701600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:81700600-81701200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr14:81700600-81701600	Enhancers	Brain Germinal Matrix	brain
11	chr14:81700800-81701600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:81700800-81701600	Enhancers	Dnd41	blood
13	chr14:81701000-81703400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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