Variant report

Variant	rs545151905
Chromosome Location	chr21:40983773-40983774
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv11702	chr21:40981640-40987483	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv587484	chr21:40983133-40986120	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40970800-40984600	Weak transcription	Right Atrium	heart
2	chr21:40981600-40984200	Enhancers	Stomach Mucosa	stomach
3	chr21:40982000-40984200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:40982400-40984200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:40982400-40984200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:40982400-40984400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr21:40982600-40984000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr21:40982600-40984200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr21:40982800-40983800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:40982800-40985200	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr21:40982800-40986000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr21:40982800-40986400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr21:40983200-40983800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:40983200-40984000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr21:40983200-40984000	Bivalent Enhancer	Fetal Stomach	stomach
16	chr21:40983200-40984600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr21:40983200-40985600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr21:40983200-40987600	Active TSS	Brain Anterior Caudate	brain
19	chr21:40983400-40984000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
20	chr21:40983400-40984200	Bivalent Enhancer	Fetal Brain Female	brain
21	chr21:40983400-40984400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr21:40983400-40984400	Bivalent Enhancer	Fetal Lung	lung
23	chr21:40983400-40984400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr21:40983400-40984600	Flanking Active TSS	NH-A	brain
25	chr21:40983400-40985200	Bivalent Enhancer	Fetal Brain Male	brain
26	chr21:40983400-40985600	Active TSS	Pancreas	Pancrea
27	chr21:40983400-40985800	Active TSS	Brain Hippocampus Middle	brain
28	chr21:40983400-40986200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:40983600-40983800	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr21:40983600-40983800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr21:40983600-40983800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr21:40983600-40983800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr21:40983600-40983800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
34	chr21:40983600-40984200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr21:40983600-40984200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr21:40983600-40984400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr21:40983600-40984400	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr21:40983600-40984400	Bivalent/Poised TSS	Fetal Thymus	thymus
39	chr21:40983600-40984600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr21:40983600-40984800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr21:40983600-40985200	Active TSS	Brain Substantia Nigra	brain
42	chr21:40983600-40985800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr21:40983600-40986000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr21:40983600-40986000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
45	chr21:40983600-40986200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr21:40983600-40986600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum

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