Variant report

Variant	rs377316187
Chromosome Location	chr21:27942412-27942413
allele	A/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:37 , 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	chr21:27923000-27944200	Weak transcription	Fetal Stomach	stomach
5	chr21:27923200-27944200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:27923400-27944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:27929000-27944800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:27930200-27942600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr21:27931400-27943000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr21:27931400-27944400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr21:27931600-27944400	Weak transcription	Left Ventricle	heart
12	chr21:27933200-27945000	Weak transcription	Spleen	Spleen
13	chr21:27934000-27944400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:27934200-27943200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr21:27935200-27944800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:27938200-27943200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr21:27938600-27942800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr21:27938800-27942600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr21:27938800-27943600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:27939200-27942600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr21:27939200-27944400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:27940800-27943200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr21:27942000-27944400	Active TSS	Adipose Nuclei	Adipose
24	chr21:27942200-27943200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr21:27942200-27943600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr21:27942200-27944800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr21:27942200-27944800	Flanking Active TSS	HUVEC	blood vessel
28	chr21:27942400-27942600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr21:27942400-27942600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr21:27942400-27942800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr21:27942400-27942800	Flanking Active TSS	Fetal Kidney	kidney
32	chr21:27942400-27942800	Enhancers	Fetal Lung	lung
33	chr21:27942400-27943400	Enhancers	Primary hematopoietic stem cells	blood
34	chr21:27942400-27943600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr21:27942400-27944000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr21:27942400-27944000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr21:27942400-27946000	Active TSS	Right Atrium	heart

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