Variant report

Variant	rs2830282
Chromosome Location	chr21:27933758-27933759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:27928612..27931173-chr21:27932871..27935340,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs13433470	1.00[AMR][1000 genomes]
rs1543775	1.00[AMR][1000 genomes]
rs1893573	1.00[AMR][1000 genomes]
rs1893576	0.90[AFR][1000 genomes]
rs2135305	1.00[AMR][1000 genomes]
rs2830275	0.83[AMR][1000 genomes]
rs2830280	1.00[AMR][1000 genomes]
rs2830293	0.87[AFR][1000 genomes]
rs2830294	0.87[AFR][1000 genomes]
rs2830295	1.00[AMR][1000 genomes]
rs2830296	1.00[AMR][1000 genomes]
rs2830298	1.00[AMR][1000 genomes]
rs2830299	1.00[AMR][1000 genomes]
rs2830300	1.00[AMR][1000 genomes]
rs2830301	1.00[AMR][1000 genomes]
rs28401356	1.00[AMR][1000 genomes]
rs28525622	1.00[AMR][1000 genomes]
rs28572488	0.83[AMR][1000 genomes]
rs28624518	0.83[AMR][1000 genomes]
rs28678819	1.00[AMR][1000 genomes]
rs57821067	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59317497	0.81[AFR][1000 genomes]
rs7277524	1.00[AMR][1000 genomes]
rs7283190	1.00[AMR][1000 genomes]
rs73351185	1.00[AMR][1000 genomes]
rs73351190	1.00[AMR][1000 genomes]
rs73353008	1.00[AMR][1000 genomes]
rs8127446	0.83[AMR][1000 genomes]
rs8128689	1.00[AMR][1000 genomes]
rs8129932	1.00[AMR][1000 genomes]
rs8129933	1.00[AMR][1000 genomes]
rs8130654	1.00[AMR][1000 genomes]
rs8133538	0.91[AMR][1000 genomes]
rs9974221	1.00[AMR][1000 genomes]
rs9975467	1.00[AMR][1000 genomes]
rs9975732	0.91[AMR][1000 genomes]
rs9978127	1.00[AMR][1000 genomes]
rs9979986	1.00[AMR][1000 genomes]
rs9980194	1.00[AMR][1000 genomes]
rs9980419	1.00[AMR][1000 genomes]
rs9989934	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056506	chr21:27332898-28049880	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv544412	chr21:27332898-28049880	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv587335	chr21:27715263-27955385	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27886200-27944200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr21:27912600-27942600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr21:27914600-27944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:27920000-27936200	Weak transcription	HUVEC	blood vessel
5	chr21:27920200-27934600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr21:27923000-27944200	Weak transcription	Fetal Stomach	stomach
7	chr21:27923200-27944200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr21:27923400-27944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:27923800-27937600	Weak transcription	Fetal Kidney	kidney
10	chr21:27929000-27935000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr21:27929000-27944800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr21:27929400-27935000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr21:27930000-27935000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:27930200-27934400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:27930200-27939000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:27930200-27942600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr21:27930400-27933800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:27930800-27934200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr21:27930800-27934800	Strong transcription	Fetal Lung	lung
20	chr21:27931200-27934400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr21:27931200-27937400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr21:27931400-27935000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr21:27931400-27943000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr21:27931400-27944400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr21:27931600-27944400	Weak transcription	Left Ventricle	heart
26	chr21:27931800-27935600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr21:27932000-27933800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr21:27932400-27934200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr21:27932600-27934600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr21:27932800-27933800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr21:27933200-27940400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr21:27933200-27942400	Weak transcription	Right Atrium	heart
33	chr21:27933200-27945000	Weak transcription	Spleen	Spleen
34	chr21:27933400-27936000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr21:27933400-27937000	Weak transcription	H1 Cell Line	embryonic stem cell

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