Variant report

Variant	rs2823420
Chromosome Location	chr21:17031675-17031676
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1004683	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1016008	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1158634	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2179026	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2205576	0.81[EUR][1000 genomes]
rs2223174	0.93[ASN][1000 genomes]
rs2242863	0.93[ASN][1000 genomes]
rs2242865	0.95[ASN][1000 genomes]
rs2242872	0.90[ASN][1000 genomes]
rs2256231	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2403979	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2403980	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823412	0.93[ASN][1000 genomes]
rs2823414	0.81[ASN][1000 genomes]
rs2823416	0.93[ASN][1000 genomes]
rs2823417	0.93[ASN][1000 genomes]
rs2823421	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823422	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823430	0.93[ASN][1000 genomes]
rs2823435	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4613369	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4816659	0.93[ASN][1000 genomes]
rs62219111	0.92[ASN][1000 genomes]
rs6517570	0.86[ASN][1000 genomes]
rs6517573	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7280176	0.93[ASN][1000 genomes]
rs7280368	0.81[ASN][1000 genomes]
rs7283055	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8129011	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9305681	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9305682	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9974948	0.93[ASN][1000 genomes]
rs9975220	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9976548	0.93[ASN][1000 genomes]
rs9977149	0.90[ASN][1000 genomes]
rs9977150	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9977383	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9977770	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9977930	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2758530	chr21:16912646-17096678	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2758810	chr21:16912646-17096678	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	esv2830057	chr21:16960590-17113148	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1056833	chr21:17018524-17086705	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17030400-17032000	Enhancers	Fetal Intestine Small	intestine
2	chr21:17031000-17032400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr21:17031400-17033200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr21:17031600-17032000	Enhancers	Duodenum Mucosa	Duodenum
5	chr21:17031600-17032600	Weak transcription	Fetal Intestine Large	intestine
6	chr21:17031600-17033000	Active TSS	A549	lung
7	chr21:17031600-17033000	Enhancers	HepG2	liver

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