Variant report

Variant	rs8046629
Chromosome Location	chr16:71643116-71643117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10500560	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1056303	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11640830	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11648483	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11670	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12446005	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12448022	0.82[AFR][1000 genomes]
rs12924631	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1345868	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34028112	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs34680964	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61753635	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71403864	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7185575	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7190257	0.93[ASN][1000 genomes]
rs7192860	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7205340	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8049163	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8053623	0.93[AFR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv3430225	chr16:71633500-71661205	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71641200-71644800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:71641800-71644800	Weak transcription	Placenta	Placenta
3	chr16:71642000-71645400	Enhancers	GM12878-XiMat	blood
4	chr16:71642200-71643600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr16:71642600-71644800	Weak transcription	A549	lung
6	chr16:71642800-71644800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr16:71642800-71644800	Weak transcription	HepG2	liver
8	chr16:71642800-71645200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:71643000-71644800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr16:71643000-71644800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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