Variant report

Variant	rs8128533
Chromosome Location	chr21:27923508-27923509
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABPA-4	chr21:27922638-27924446	ENSG00000197934.4

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12626569	0.85[AMR][1000 genomes]
rs55717619	0.85[AMR][1000 genomes]
rs55769509	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55781601	0.82[EUR][1000 genomes]
rs55850110	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56409945	0.82[EUR][1000 genomes]
rs59286515	0.80[ASN][1000 genomes]
rs62216530	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62216531	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62216538	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62216541	0.85[AMR][1000 genomes]
rs8134193	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][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:29 , 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	chr21:27912600-27928800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:27912600-27942600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr21:27913000-27930800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr21:27914600-27944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:27916400-27932400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr21:27919600-27925600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:27919600-27927200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr21:27919600-27929400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr21:27920000-27930200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr21:27920000-27936200	Weak transcription	HUVEC	blood vessel
19	chr21:27920200-27934600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr21:27920800-27926800	Weak transcription	Right Atrium	heart
21	chr21:27921000-27931400	Weak transcription	Left Ventricle	heart
22	chr21:27922200-27923600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:27923000-27944200	Weak transcription	Fetal Stomach	stomach
24	chr21:27923200-27925800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr21:27923200-27944200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr21:27923400-27923800	Enhancers	Fetal Kidney	kidney
27	chr21:27923400-27923800	Enhancers	Fetal Lung	lung
28	chr21:27923400-27930800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr21:27923400-27944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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