Variant report

Variant	rs58319566
Chromosome Location	chr16:70329944-70329945
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70319780..70324322-chr16:70325066..70330067,6	MCF-7	breast:
2	chr16:70321807..70326700-chr16:70327142..70336316,14	MCF-7	breast:
3	chr16:70326812..70331019-chr16:70331790..70334670,4	MCF-7	breast:
4	chr16:70321558..70325394-chr16:70325539..70331219,12	K562	blood:

Variant related genes	Relation type
ENSG00000090861	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000260537	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs11537667	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11859191	0.91[AMR][1000 genomes]
rs11859257	0.90[AMR][1000 genomes]
rs11859730	0.80[AMR][1000 genomes]
rs11859827	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11860870	0.85[AFR][1000 genomes]
rs11860922	0.90[AMR][1000 genomes]
rs11861097	0.91[AMR][1000 genomes]
rs11862053	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11862150	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11862188	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11866378	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11866451	0.90[AMR][1000 genomes]
rs16970361	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16970609	0.86[AFR][1000 genomes]
rs2869156	0.90[AMR][1000 genomes]
rs3972075	0.80[AMR][1000 genomes]
rs3972090	0.83[AMR][1000 genomes]
rs55657328	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs55805938	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs55819743	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs55936739	0.84[AFR][1000 genomes]
rs55963712	0.91[AMR][1000 genomes]
rs55965002	0.90[AMR][1000 genomes]
rs55971559	0.90[AMR][1000 genomes]
rs56043981	0.84[AFR][1000 genomes]
rs56051513	0.80[AMR][1000 genomes]
rs56090000	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs56096542	0.82[AFR][1000 genomes]
rs56217164	0.86[AFR][1000 genomes]
rs56234537	0.86[AFR][1000 genomes]
rs57279408	0.86[AFR][1000 genomes]
rs57320283	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs57623576	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58131227	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs59384897	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs59612351	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs59769732	0.90[AMR][1000 genomes]
rs59791510	0.84[AFR][1000 genomes]
rs59849898	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60103946	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60426209	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60463946	0.90[AMR][1000 genomes]
rs60523557	0.84[AFR][1000 genomes]
rs60841206	0.90[AMR][1000 genomes]
rs61172065	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61391917	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61594809	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6499307	0.91[AMR][1000 genomes]
rs6499309	0.86[AFR][1000 genomes]
rs7184248	0.82[AFR][1000 genomes]
rs7185665	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7186024	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7189535	0.91[AMR][1000 genomes]
rs7190921	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7191210	0.83[AMR][1000 genomes]
rs7195567	0.84[AFR][1000 genomes]
rs7198871	0.91[AMR][1000 genomes]
rs7204800	0.84[AFR][1000 genomes]
rs7205871	0.82[AFR][1000 genomes]
rs74024172	1.00[AMR][1000 genomes]
rs74024176	0.90[AMR][1000 genomes]
rs74024177	0.90[AMR][1000 genomes]
rs74024180	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74024182	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74024183	0.91[AMR][1000 genomes]
rs74024184	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74024185	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74024186	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74024187	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74024191	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74024193	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74024196	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74024199	0.84[AFR][1000 genomes]
rs74024200	0.84[AFR][1000 genomes]
rs8044699	0.80[AMR][1000 genomes]
rs8045571	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8045769	0.80[AMR][1000 genomes]
rs8046280	0.80[AFR][1000 genomes]
rs8046662	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8049361	0.80[AMR][1000 genomes]
rs8053040	0.84[AFR][1000 genomes]
rs8055675	0.91[AMR][1000 genomes]
rs8056196	0.91[AMR][1000 genomes]
rs8063749	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

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	chr16:70329000-70330800	Enhancers	HepG2	liver
12	chr16:70329000-70332400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr16:70329000-70332800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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