Variant report

Variant	rs4485730
Chromosome Location	chr3:84021256-84021257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11127830	0.93[ASN][1000 genomes]
rs11717294	0.81[EUR][1000 genomes]
rs13088110	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13090357	0.82[ASN][1000 genomes]
rs2141292	0.82[ASN][1000 genomes]
rs34988070	0.82[ASN][1000 genomes]
rs4286442	0.82[ASN][1000 genomes]
rs4339118	0.81[EUR][1000 genomes]
rs4630957	0.80[ASN][1000 genomes]
rs62260276	0.81[EUR][1000 genomes]
rs7645935	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9815061	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9825344	0.86[EUR][1000 genomes]
rs9853129	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9854160	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9878647	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006081	chr3:83421626-84262106	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1012918	chr3:83784488-84191829	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv536610	chr3:83784488-84191829	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv999325	chr3:83832320-84049295	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv428740	chr3:83886472-84069201	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv877073	chr3:83945963-84066103	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv877074	chr3:83952144-84066103	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv877075	chr3:83952144-84199075	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv470705	chr3:83970229-84047796	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv877076	chr3:83970787-84094818	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv877077	chr3:83976987-84094818	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv834751	chr3:83987488-84133470	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv877078	chr3:83991464-84199075	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv528225	chr3:84017630-84024847	Weak transcription Enhancers ZNF genes & repeats Strong transcription	lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv877079	chr3:84017630-84066103	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS	lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84018600-84021400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:84020400-84021400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:84020400-84021400	ZNF genes & repeats	Dnd41	blood
4	chr3:84021000-84024000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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