Variant report

Variant	rs2822383
Chromosome Location	chr21:15400618-15400619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11087899	0.92[CHB][hapmap];0.84[CHD][hapmap]
rs11910192	0.81[ASN][1000 genomes]
rs13046630	0.88[EUR][1000 genomes]
rs13048438	0.87[EUR][1000 genomes]
rs2525599	0.80[EUR][1000 genomes]
rs2822384	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2822395	0.83[ASN][1000 genomes]
rs34338538	0.88[EUR][1000 genomes]
rs35827720	0.86[EUR][1000 genomes]
rs4611722	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56332780	0.81[ASN][1000 genomes]
rs60821881	0.85[EUR][1000 genomes]
rs6516571	0.93[EUR][1000 genomes]
rs8129930	0.88[EUR][1000 genomes]
rs8130888	0.83[ASN][1000 genomes]
rs8131071	0.83[ASN][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	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1067433	chr21:14736298-15507502	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1055396	chr21:14756514-15507502	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv1062639	chr21:14775729-15507502	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	nsv587015	chr21:14957973-15448560	Genic enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
6	nsv913388	chr21:15173846-15400618	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1058072	chr21:15372509-15568171	Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15399200-15400800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr21:15399200-15400800	Active TSS	Muscle Satellite Cultured Cells	--
3	chr21:15399200-15401000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr21:15399200-15401000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr21:15399200-15401200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr21:15399200-15401200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr21:15399200-15401400	Active TSS	Brain Germinal Matrix	brain
8	chr21:15399200-15401600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr21:15399200-15401600	Active TSS	Fetal Brain Female	brain
10	chr21:15399200-15403800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:15399400-15400800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:15399400-15400800	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr21:15399400-15400800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:15399400-15400800	Active TSS	NHLF	lung
15	chr21:15399400-15401000	Active TSS	NHDF-Ad	bronchial
16	chr21:15399400-15401200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr21:15399400-15401200	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr21:15399400-15401200	Active TSS	NH-A	brain
19	chr21:15399400-15401800	Active TSS	Rectal Smooth Muscle	rectum
20	chr21:15399400-15402200	Active TSS	Stomach Smooth Muscle	stomach
21	chr21:15399400-15402600	Active TSS	GM12878-XiMat	blood
22	chr21:15399600-15400800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr21:15399600-15400800	Active TSS	Colon Smooth Muscle	Colon
24	chr21:15399600-15400800	Active TSS	HSMM	muscle
25	chr21:15399600-15401000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:15399600-15401000	Active TSS	HMEC	breast
27	chr21:15399600-15401200	Active TSS	H1 Cell Line	embryonic stem cell
28	chr21:15399600-15401200	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr21:15399600-15401200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:15399600-15401600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr21:15399800-15401600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr21:15400200-15407000	Weak transcription	Ovary	ovary
33	chr21:15400200-15409000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr21:15400400-15401000	Enhancers	Osteobl	bone
35	chr21:15400400-15401200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr21:15400400-15401400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:15400400-15401600	Flanking Active TSS	Dnd41	blood
38	chr21:15400400-15402200	Weak transcription	Esophagus	oesophagus
39	chr21:15400400-15407000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr21:15400400-15407200	Weak transcription	Fetal Lung	lung
41	chr21:15400400-15407400	Weak transcription	Thymus	Thymus
42	chr21:15400400-15411000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:15400400-15412200	Weak transcription	Fetal Thymus	thymus
44	chr21:15400600-15400800	Flanking Active TSS	A549	lung
45	chr21:15400600-15400800	Weak transcription	K562	blood
46	chr21:15400600-15401000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr21:15400600-15401000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr21:15400600-15401000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr21:15400600-15401000	Flanking Active TSS	Hela-S3	cervix
50	chr21:15400600-15401600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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