Variant report

Variant	rs558091468
Chromosome Location	chr21:40983174-40983175
allele	C/T
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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40970800-40984600	Weak transcription	Right Atrium	heart
2	chr21:40976800-40983200	Weak transcription	Brain Anterior Caudate	brain
3	chr21:40981000-40983600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:40981400-40983200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:40981600-40984200	Enhancers	Stomach Mucosa	stomach
6	chr21:40981800-40983400	Enhancers	Fetal Intestine Large	intestine
7	chr21:40982000-40984200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr21:40982200-40983400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr21:40982200-40983400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:40982400-40983600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr21:40982400-40983600	Bivalent Enhancer	Fetal Intestine Small	intestine
12	chr21:40982400-40984200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:40982400-40984200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:40982400-40984400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr21:40982600-40983200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:40982600-40983200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr21:40982600-40983200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:40982600-40983200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr21:40982600-40983200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr21:40982600-40983400	Enhancers	NH-A	brain
21	chr21:40982600-40983600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:40982600-40984000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr21:40982600-40984200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr21:40982800-40983800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:40982800-40985200	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr21:40982800-40986000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr21:40982800-40986400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr21:40983000-40983200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
29	chr21:40983000-40983200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr21:40983000-40983200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr21:40983000-40983400	Weak transcription	Pancreas	Pancrea
32	chr21:40983000-40983600	Enhancers	Cortex derived primary cultured neurospheres	brain

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