Variant report

Variant	rs2823888
Chromosome Location	chr21:17943480-17943481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2155618	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2823881	0.84[TSI][hapmap]
rs2823892	0.83[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2823893	1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823895	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs977876	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	esv2525221	chr21:17943274-17945331	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv2219573	chr21:17943466-17944785	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17925400-17960400	Weak transcription	Esophagus	oesophagus
2	chr21:17927200-17950200	Weak transcription	Fetal Lung	lung
3	chr21:17927200-17950800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr21:17934600-17958600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr21:17936400-17950400	Weak transcription	Adipose Nuclei	Adipose
6	chr21:17936400-17951600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:17936600-17951400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:17936600-17951400	Weak transcription	Left Ventricle	heart
9	chr21:17936800-17959400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:17941200-17947000	Enhancers	HSMM	muscle
11	chr21:17941200-17951800	Weak transcription	Fetal Kidney	kidney
12	chr21:17941600-17944000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr21:17941800-17946600	Enhancers	NH-A	brain
14	chr21:17942000-17943600	Enhancers	Brain Hippocampus Middle	brain
15	chr21:17942000-17943600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr21:17942000-17943800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr21:17942000-17944000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:17942000-17944200	Enhancers	HMEC	breast
19	chr21:17942000-17944600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr21:17942200-17945800	Weak transcription	Right Ventricle	heart
21	chr21:17942200-17950600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr21:17942400-17945600	Weak transcription	NHDF-Ad	bronchial
23	chr21:17942600-17943800	Enhancers	Rectal Smooth Muscle	rectum
24	chr21:17942800-17943600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr21:17942800-17944400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr21:17942800-17945000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr21:17943000-17943600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr21:17943000-17943600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:17943000-17950400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr21:17943000-17951400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr21:17943200-17943600	Enhancers	Aorta	Aorta
32	chr21:17943200-17943600	Enhancers	Psoas Muscle	Psoas
33	chr21:17943200-17943600	Active TSS	A549	lung
34	chr21:17943200-17944000	Enhancers	Colon Smooth Muscle	Colon
35	chr21:17943200-17944200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr21:17943200-17944400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr21:17943200-17944400	Enhancers	HUVEC	blood vessel
38	chr21:17943200-17944800	Flanking Active TSS	Osteobl	bone
39	chr21:17943200-17956000	Weak transcription	Hela-S3	cervix
40	chr21:17943400-17944000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr21:17943400-17944200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr21:17943400-17944200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr21:17943400-17944600	Enhancers	HSMMtube	muscle

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