Variant report

Variant	rs4889299
Chromosome Location	chr16:81329128-81329129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81297782..81301485-chr16:81326515..81330018,4	MCF-7	breast:
2	chr16:81322615..81326128-chr16:81326201..81331099,5	MCF-7	breast:
3	chr16:81299744..81301452-chr16:81327574..81330575,3	MCF-7	breast:
4	chr16:81328128..81330330-chr16:81332372..81334945,3	MCF-7	breast:
5	chr16:81208882..81211862-chr16:81326884..81329141,2	K562	blood:
6	chr16:81310484..81313068-chr16:81326706..81330411,4	MCF-7	breast:
7	chr16:81323577..81326215-chr16:81326457..81329362,4	MCF-7	breast:
8	chr16:81112934..81115572-chr16:81327952..81330116,2	MCF-7	breast:
9	chr16:81327170..81331013-chr16:81381065..81384742,3	MCF-7	breast:
10	chr16:81039699..81041227-chr16:81327657..81329213,2	MCF-7	breast:
11	chr16:81327875..81329613-chr16:81342269..81343952,2	MCF-7	breast:
12	chr16:81326996..81329289-chr16:81330307..81331868,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166451	Chromatin interaction
ENSG00000103121	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1035573	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11150386	1.00[JPT][hapmap]
rs11647874	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11859133	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12149852	1.00[JPT][hapmap]
rs12448327	0.83[CEU][hapmap]
rs12599564	1.00[JPT][hapmap]
rs12924233	1.00[JPT][hapmap]
rs12929595	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12929776	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17188615	0.94[CEU][hapmap]
rs1862843	0.89[CEU][hapmap];0.81[AMR][1000 genomes]
rs1895539	0.94[CEU][hapmap];0.84[AMR][1000 genomes]
rs1946285	0.94[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1946287	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1981884	0.94[CEU][hapmap];0.82[AMR][1000 genomes]
rs2059280	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2081264	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2216771	0.94[CEU][hapmap];0.82[AMR][1000 genomes]
rs2550738	0.84[CEU][hapmap]
rs2615701	0.84[CEU][hapmap]
rs2911441	0.80[CEU][hapmap]
rs310032	0.83[CEU][hapmap]
rs310035	0.94[CEU][hapmap]
rs3809632	1.00[JPT][hapmap]
rs4598907	1.00[JPT][hapmap]
rs4625712	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889300	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889302	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4889307	0.94[CEU][hapmap]
rs4889308	0.84[AMR][1000 genomes]
rs56256128	0.88[EUR][1000 genomes]
rs6564868	1.00[JPT][hapmap]
rs6564871	0.89[CEU][hapmap]
rs7184259	1.00[JPT][hapmap]
rs7191409	0.94[CEU][hapmap];0.84[AMR][1000 genomes]
rs7196075	1.00[JPT][hapmap]
rs7202902	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8053351	0.82[EUR][1000 genomes]
rs8060840	1.00[JPT][hapmap]
rs889747	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs918773	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs918775	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9673795	0.84[AMR][1000 genomes]
rs9889027	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9926795	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
5	esv2755860	chr16:81262516-81333568	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81309200-81345200	Weak transcription	Brain Hippocampus Middle	brain
2	chr16:81326600-81329600	Enhancers	Stomach Mucosa	stomach
3	chr16:81327600-81329200	Enhancers	Small Intestine	intestine
4	chr16:81328000-81347000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:81328200-81329600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr16:81328200-81347000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr16:81328600-81329200	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr16:81328600-81347000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:81328800-81330200	Weak transcription	Gastric	stomach
10	chr16:81328800-81344800	Weak transcription	Fetal Intestine Small	intestine
11	chr16:81328800-81345200	Weak transcription	Fetal Intestine Large	intestine

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