Variant report

Variant	rs62216535
Chromosome Location	chr21:27945141-27945142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11909702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11909722	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11909726	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11909749	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12627626	0.82[AMR][1000 genomes]
rs1893574	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2830292	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28379858	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28493969	0.88[ASN][1000 genomes]
rs59718907	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73351202	0.94[AFR][1000 genomes]
rs8129509	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9981504	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv544413	chr21:27942060-28065995	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27942400-27946000	Active TSS	Right Atrium	heart
2	chr21:27942600-27945800	Active TSS	Psoas Muscle	Psoas
3	chr21:27943400-27945400	Active TSS	Right Ventricle	heart
4	chr21:27943400-27945800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr21:27943400-27946000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr21:27943400-27946000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr21:27943400-27946000	Active TSS	Fetal Lung	lung
8	chr21:27943400-27946000	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr21:27943400-27946200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr21:27943600-27945200	Bivalent/Poised TSS	Liver	Liver
11	chr21:27943600-27945600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr21:27943600-27946000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr21:27943600-27946000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr21:27943600-27946200	Active TSS	Fetal Kidney	kidney
15	chr21:27943800-27946000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr21:27943800-27946000	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr21:27943800-27946200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr21:27943800-27946600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr21:27944000-27946200	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr21:27944000-27946200	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr21:27944200-27945200	Active TSS	Fetal Brain Female	brain
22	chr21:27944200-27945800	Active TSS	Fetal Stomach	stomach
23	chr21:27944200-27945800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr21:27944200-27946000	Active TSS	H9 Cell Line	embryonic stem cell
25	chr21:27944200-27946000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr21:27944200-27946000	Active TSS	NHEK	skin
27	chr21:27944200-27946200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:27944200-27946200	ZNF genes & repeats	Fetal Brain Male	brain
29	chr21:27944400-27945400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
30	chr21:27944400-27945400	Active TSS	Brain Germinal Matrix	brain
31	chr21:27944400-27945800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:27944400-27945800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr21:27944400-27945800	Active TSS	Duodenum Mucosa	Duodenum
34	chr21:27944400-27946000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr21:27944400-27946000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr21:27944400-27946000	Active TSS	NH-A	brain
37	chr21:27944400-27946200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr21:27944600-27945400	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
39	chr21:27944600-27945600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:27944600-27945800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr21:27944600-27945800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
42	chr21:27944600-27945800	Active TSS	Stomach Smooth Muscle	stomach
43	chr21:27944600-27946000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr21:27944600-27946200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr21:27944800-27945200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr21:27944800-27945200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
47	chr21:27944800-27945200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr21:27944800-27945200	Active TSS	Rectal Smooth Muscle	rectum
49	chr21:27944800-27945200	Active TSS	HSMMtube	muscle
50	chr21:27944800-27945400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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