Variant report

Variant	rs2823421
Chromosome Location	chr21:17032683-17032684
allele	C/T
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	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1016008	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1158634	0.86[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]
rs2823420	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823422	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823430	0.93[ASN][1000 genomes]
rs2823435	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4613369	0.81[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	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7280176	0.93[ASN][1000 genomes]
rs7280368	0.81[ASN][1000 genomes]
rs7283055	0.83[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	0.86[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	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9977770	0.84[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17031400-17033200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr21:17031600-17033000	Active TSS	A549	lung
3	chr21:17031600-17033000	Enhancers	HepG2	liver
4	chr21:17031800-17032800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:17031800-17032800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr21:17031800-17032800	Enhancers	Rectal Smooth Muscle	rectum
7	chr21:17031800-17032800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr21:17031800-17033000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr21:17031800-17033000	Enhancers	Liver	Liver
10	chr21:17031800-17034000	Enhancers	Fetal Lung	lung
11	chr21:17032000-17032800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr21:17032000-17033000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:17032000-17033000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:17032000-17033000	Weak transcription	Fetal Intestine Small	intestine
15	chr21:17032000-17033200	Enhancers	NHEK	skin
16	chr21:17032000-17033400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:17032000-17033400	Enhancers	Fetal Kidney	kidney
18	chr21:17032200-17032800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:17032200-17032800	Enhancers	Colon Smooth Muscle	Colon
20	chr21:17032200-17033200	Enhancers	Fetal Heart	heart
21	chr21:17032400-17032800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr21:17032400-17033400	Enhancers	Duodenum Mucosa	Duodenum
23	chr21:17032600-17032800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr21:17032600-17032800	Enhancers	NHDF-Ad	bronchial
25	chr21:17032600-17034200	Enhancers	Fetal Intestine Large	intestine

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