Variant report

Variant	rs9678585
Chromosome Location	chr2:31506463-31506464
allele	C/T
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:17)

rs_ID	r²[population]
rs10175943	0.92[EUR][1000 genomes]
rs11124256	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11683836	0.90[EUR][1000 genomes]
rs12988379	0.89[EUR][1000 genomes]
rs1474941	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2145036	0.89[EUR][1000 genomes]
rs4366947	0.90[EUR][1000 genomes]
rs4951976	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4951977	0.87[EUR][1000 genomes]
rs4952077	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4952078	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs586245	0.84[EUR][1000 genomes]
rs598204	0.85[EUR][1000 genomes]
rs637911	0.87[EUR][1000 genomes]
rs684967	0.85[EUR][1000 genomes]
rs7567147	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7581173	0.92[AMR][1000 genomes];0.85[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	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:13 , 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	chr2:31492400-31507800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:31492800-31510600	Weak transcription	Aorta	Aorta
4	chr2:31495800-31509800	Weak transcription	Esophagus	oesophagus
5	chr2:31497000-31510400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:31504600-31512800	Enhancers	Placenta	Placenta
7	chr2:31505800-31508200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:31506000-31507000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:31506200-31509000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:31506200-31510000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:31506400-31508400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:31506400-31508800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:31506400-31508800	Weak transcription	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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