Variant report

Variant	rs73349239
Chromosome Location	chr21:27862142-27862143
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs35253087	0.88[AFR][1000 genomes]
rs73349219	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73349257	0.88[AFR][1000 genomes]
rs73365128	0.88[AFR][1000 genomes]

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	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
6	esv1844181	chr21:27854701-27879342	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27843400-27878800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr21:27847000-27862800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr21:27849400-27863000	Weak transcription	Fetal Kidney	kidney
4	chr21:27851400-27863000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:27851400-27864000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr21:27852200-27863000	Weak transcription	Fetal Lung	lung
7	chr21:27852600-27862800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:27852600-27863000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr21:27852600-27867600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr21:27852800-27862200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:27852800-27871400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr21:27853000-27863200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:27856600-27862800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:27859600-27862400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:27859600-27862400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:27862000-27862600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr21:27862000-27862600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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