Variant report

Variant	rs9927480
Chromosome Location	chr16:70331126-70331127
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13334712	1.00[EUR][1000 genomes]
rs13337437	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1979594	1.00[EUR][1000 genomes]
rs57301833	1.00[EUR][1000 genomes]
rs60828997	1.00[EUR][1000 genomes]
rs7193598	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7200034	1.00[EUR][1000 genomes]
rs7200891	1.00[EUR][1000 genomes]
rs8047189	0.87[AMR][1000 genomes]
rs891138	1.00[EUR][1000 genomes]
rs9922969	0.87[AMR][1000 genomes]
rs9924352	1.00[EUR][1000 genomes]
rs9931779	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9934707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9940592	0.87[AMR][1000 genomes]
rs9940654	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1061286	chr16:70253809-70331407	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv960356	chr16:70318585-70339325	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
6	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
7	esv3386827	chr16:70330801-70331157	Weak transcription	Chromatin interactive region	4 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	chr16:70324000-70332400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr16:70324000-70332600	Weak transcription	NHEK	skin
3	chr16:70324000-70332800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:70324200-70332400	Weak transcription	Colonic Mucosa	Colon
5	chr16:70324200-70332400	Weak transcription	Fetal Muscle Leg	muscle
6	chr16:70324200-70332600	Weak transcription	Placenta	Placenta
7	chr16:70324400-70332400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:70325400-70332400	Weak transcription	HUVEC	blood vessel
9	chr16:70328800-70332200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:70328800-70332400	Weak transcription	Hela-S3	cervix
11	chr16:70329000-70332400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr16:70329000-70332800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:70330800-70332400	Weak transcription	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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