Variant report

Variant	rs2242866
Chromosome Location	chr21:17032403-17032404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1016009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11700982	0.83[AMR][1000 genomes]
rs2242862	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2242869	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823434	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823438	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs726634	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs979155	0.88[AMR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17031400-17033200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr21:17031600-17032600	Weak transcription	Fetal Intestine Large	intestine
3	chr21:17031600-17033000	Active TSS	A549	lung
4	chr21:17031600-17033000	Enhancers	HepG2	liver
5	chr21:17031800-17032800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:17031800-17032800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr21:17031800-17032800	Enhancers	Rectal Smooth Muscle	rectum
8	chr21:17031800-17032800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr21:17031800-17033000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr21:17031800-17033000	Enhancers	Liver	Liver
11	chr21:17031800-17034000	Enhancers	Fetal Lung	lung
12	chr21:17032000-17032600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:17032000-17032600	Enhancers	HSMMtube	muscle
14	chr21:17032000-17032800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr21:17032000-17033000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr21:17032000-17033000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:17032000-17033000	Weak transcription	Fetal Intestine Small	intestine
18	chr21:17032000-17033200	Enhancers	NHEK	skin
19	chr21:17032000-17033400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:17032000-17033400	Enhancers	Fetal Kidney	kidney
21	chr21:17032200-17032600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr21:17032200-17032600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr21:17032200-17032600	Weak transcription	NHDF-Ad	bronchial
24	chr21:17032200-17032800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:17032200-17032800	Enhancers	Colon Smooth Muscle	Colon
26	chr21:17032200-17033200	Enhancers	Fetal Heart	heart
27	chr21:17032400-17032600	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr21:17032400-17032800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr21:17032400-17033400	Enhancers	Duodenum Mucosa	Duodenum

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