Variant report

Variant	rs16980647
Chromosome Location	chr21:28821750-28821751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr21:28821082-28821986	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000231236	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16980566	0.83[AMR][1000 genomes]
rs1979179	0.83[AMR][1000 genomes]
rs1979180	0.88[AMR][1000 genomes]
rs1979181	0.88[AMR][1000 genomes]
rs2409206	0.87[JPT][hapmap];0.90[MEX][hapmap]
rs2830928	0.85[JPT][hapmap]
rs2830930	0.88[AMR][1000 genomes]
rs2830931	0.93[JPT][hapmap];0.88[AMR][1000 genomes]
rs2830932	0.88[AMR][1000 genomes]
rs2830934	0.83[AMR][1000 genomes]
rs2830936	0.83[AMR][1000 genomes]
rs2830937	0.83[AMR][1000 genomes]
rs2830938	0.83[AMR][1000 genomes]
rs56865146	0.83[AMR][1000 genomes]
rs57333997	0.83[AMR][1000 genomes]
rs59472353	0.83[AMR][1000 genomes]
rs72635039	0.83[AMR][1000 genomes]
rs72635040	0.83[AMR][1000 genomes]
rs72635041	0.83[AMR][1000 genomes]
rs72635042	0.83[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	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv916307	chr21:28762455-28905095	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv913667	chr21:28798703-28887357	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3333927	chr21:28803698-28855312	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv834071	chr21:28806911-28988880	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28820800-28822000	Enhancers	HUVEC	blood vessel
2	chr21:28820800-28823800	Weak transcription	Psoas Muscle	Psoas
3	chr21:28821000-28822400	Weak transcription	Adipose Nuclei	Adipose
4	chr21:28821000-28825000	Weak transcription	Pancreas	Pancrea
5	chr21:28821200-28821800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr21:28821400-28821800	Active TSS	Pancreatic Islets	Pancreatic Islet

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