Variant report

Variant	rs2830280
Chromosome Location	chr21:27929202-27929203
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: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs13433431	0.90[YRI][hapmap]
rs13433470	0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1543775	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1893573	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2135305	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2830275	0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2830282	1.00[AMR][1000 genomes]
rs2830295	0.81[AFR][1000 genomes];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	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28572488	0.83[AMR][1000 genomes]
rs28624518	0.83[AMR][1000 genomes]
rs28678819	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57821067	1.00[AMR][1000 genomes]
rs7277524	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7283190	0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73351185	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73351190	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73353008	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8127446	0.83[AMR][1000 genomes]
rs8128689	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8129932	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8129933	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8130654	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8133538	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9974221	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9975467	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9975732	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9978127	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9979986	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9980194	1.00[AMR][1000 genomes]
rs9980419	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9984233	0.87[YRI][hapmap];0.82[AFR][1000 genomes]
rs9989934	0.82[AFR][1000 genomes];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:30 , 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	chr21:27892000-27930400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr21:27901800-27931400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr21:27903400-27932800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:27906000-27931200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr21:27906200-27933000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr21:27908400-27932600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr21:27908800-27930200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:27912600-27942600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr21:27913000-27930800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr21:27914600-27944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:27916400-27932400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:27919600-27929400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr21:27920000-27930200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr21:27920000-27936200	Weak transcription	HUVEC	blood vessel
16	chr21:27920200-27934600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr21:27921000-27931400	Weak transcription	Left Ventricle	heart
18	chr21:27923000-27944200	Weak transcription	Fetal Stomach	stomach
19	chr21:27923200-27944200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:27923400-27930800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr21:27923400-27944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr21:27923800-27937600	Weak transcription	Fetal Kidney	kidney
23	chr21:27926600-27932000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr21:27928000-27930400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:27928000-27930800	Weak transcription	Fetal Lung	lung
26	chr21:27928000-27933000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr21:27928200-27930000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr21:27929000-27935000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr21:27929000-27944800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr21:27929200-27930200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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