Variant report

Variant	rs559224957
Chromosome Location	chr21:27943462-27943463
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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:40 , 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	chr21:27914600-27944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:27923000-27944200	Weak transcription	Fetal Stomach	stomach
4	chr21:27923200-27944200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr21:27923400-27944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:27929000-27944800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:27931400-27944400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr21:27931600-27944400	Weak transcription	Left Ventricle	heart
9	chr21:27933200-27945000	Weak transcription	Spleen	Spleen
10	chr21:27934000-27944400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:27935200-27944800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr21:27938800-27943600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:27939200-27944400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr21:27942000-27944400	Active TSS	Adipose Nuclei	Adipose
15	chr21:27942200-27943600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr21:27942200-27944800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr21:27942200-27944800	Flanking Active TSS	HUVEC	blood vessel
18	chr21:27942400-27943600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr21:27942400-27944000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr21:27942400-27944000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr21:27942400-27946000	Active TSS	Right Atrium	heart
22	chr21:27942600-27943600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr21:27942600-27945800	Active TSS	Psoas Muscle	Psoas
24	chr21:27942800-27943800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr21:27943200-27943600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr21:27943200-27943600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr21:27943200-27944000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr21:27943400-27943600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr21:27943400-27943600	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
30	chr21:27943400-27943800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr21:27943400-27943800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr21:27943400-27943800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr21:27943400-27944000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr21:27943400-27945400	Active TSS	Right Ventricle	heart
35	chr21:27943400-27945800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr21:27943400-27946000	Active TSS	H1 Cell Line	embryonic stem cell
37	chr21:27943400-27946000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr21:27943400-27946000	Active TSS	Fetal Lung	lung
39	chr21:27943400-27946000	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr21:27943400-27946200	Active TSS	Pancreatic Islets	Pancreatic Islet

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