Variant report

Variant	rs73365128
Chromosome Location	chr21:27851276-27851277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17002220	1.00[AMR][1000 genomes]
rs35253087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73349210	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73349219	0.94[AFR][1000 genomes]
rs73349239	0.88[AFR][1000 genomes]
rs73349257	0.88[AFR][1000 genomes];1.00[AMR][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	chr21:27840000-27851400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr21:27842400-27853000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr21:27842400-27862000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr21:27843400-27878800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr21:27843600-27854800	Weak transcription	Adipose Nuclei	Adipose
7	chr21:27843800-27853600	Weak transcription	Fetal Stomach	stomach
8	chr21:27843800-27860200	Weak transcription	Left Ventricle	heart
9	chr21:27845600-27852200	Strong transcription	Fetal Lung	lung
10	chr21:27845600-27853000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:27846600-27852800	Strong transcription	Primary hematopoietic stem cells	blood
12	chr21:27847000-27852800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr21:27847000-27855000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr21:27847000-27862800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:27847600-27852400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr21:27847600-27852800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr21:27848000-27852800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:27848000-27852800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr21:27849400-27863000	Weak transcription	Fetal Kidney	kidney
20	chr21:27850000-27852600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr21:27850400-27852600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr21:27851000-27851400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr21:27851000-27851600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr21:27851200-27851400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr21:27851200-27851400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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