Variant report

Variant	rs9983959
Chromosome Location	chr21:27852185-27852186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1369171	0.81[AFR][1000 genomes]
rs178422	0.81[AFR][1000 genomes]
rs6516735	0.81[AFR][1000 genomes]
rs714428	0.81[AFR][1000 genomes]
rs9975178	0.97[AFR][1000 genomes]
rs9977420	0.97[AFR][1000 genomes]
rs9977490	0.97[AFR][1000 genomes]
rs9978642	0.96[AFR][1000 genomes]
rs9984299	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv913660	chr21:27815652-27869676	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv587336	chr21:27849346-27865978	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27839400-27856000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:27842400-27853000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:27842400-27862000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr21:27843400-27878800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr21:27843600-27854800	Weak transcription	Adipose Nuclei	Adipose
6	chr21:27843800-27853600	Weak transcription	Fetal Stomach	stomach
7	chr21:27843800-27860200	Weak transcription	Left Ventricle	heart
8	chr21:27845600-27852200	Strong transcription	Fetal Lung	lung
9	chr21:27845600-27853000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:27846600-27852800	Strong transcription	Primary hematopoietic stem cells	blood
11	chr21:27847000-27852800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr21:27847000-27855000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr21:27847000-27862800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr21:27847600-27852400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr21:27847600-27852800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr21:27848000-27852800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:27848000-27852800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:27849400-27863000	Weak transcription	Fetal Kidney	kidney
19	chr21:27850000-27852600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr21:27850400-27852600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:27851400-27854800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr21:27851400-27863000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr21:27851400-27864000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr21:27851600-27852600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr21:27851800-27852600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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