Variant report

Variant	rs62216531
Chromosome Location	chr21:27935713-27935714
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12626569	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55717619	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55769509	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55781601	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55850110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56409945	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59286515	0.83[ASN][1000 genomes]
rs62216528	0.83[AMR][1000 genomes]
rs62216530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62216532	0.83[AMR][1000 genomes]
rs62216538	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62216541	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62216546	0.85[AMR][1000 genomes]
rs8128533	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8134193	0.92[AMR][1000 genomes];0.97[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: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	chr21:27923000-27944200	Weak transcription	Fetal Stomach	stomach
6	chr21:27923200-27944200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:27923400-27944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:27923800-27937600	Weak transcription	Fetal Kidney	kidney
9	chr21:27929000-27944800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr21:27930200-27939000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:27930200-27942600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr21:27931200-27937400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:27931400-27943000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr21:27931400-27944400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr21:27931600-27944400	Weak transcription	Left Ventricle	heart
16	chr21:27933200-27940400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr21:27933200-27942400	Weak transcription	Right Atrium	heart
18	chr21:27933200-27945000	Weak transcription	Spleen	Spleen
19	chr21:27933400-27936000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr21:27933400-27937000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr21:27933800-27936000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr21:27933800-27937800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr21:27934000-27944400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:27934200-27936400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr21:27934200-27943200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr21:27934400-27936400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr21:27934600-27936600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr21:27934600-27937400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr21:27935000-27935800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:27935000-27936000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr21:27935000-27936400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr21:27935200-27936200	Weak transcription	Fetal Lung	lung
33	chr21:27935200-27938800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr21:27935200-27944800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr21:27935600-27936200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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