Variant report

Variant	rs73249216
Chromosome Location	chr12:21851953-21851954
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1283784	1.00[AMR][1000 genomes]
rs1283786	1.00[AMR][1000 genomes]
rs1283823	1.00[AMR][1000 genomes]
rs7295037	1.00[AMR][1000 genomes]
rs7309395	1.00[AMR][1000 genomes]
rs73249213	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73249278	1.00[AMR][1000 genomes]
rs73249280	1.00[AMR][1000 genomes]
rs73249297	1.00[AMR][1000 genomes]
rs73253050	1.00[AMR][1000 genomes]
rs73253058	1.00[AMR][1000 genomes]
rs73253059	1.00[AMR][1000 genomes]
rs73253061	1.00[AMR][1000 genomes]
rs829063	1.00[AMR][1000 genomes]
rs829073	1.00[AMR][1000 genomes]
rs829075	1.00[AMR][1000 genomes]
rs852813	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	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21844800-21852600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr12:21845200-21852600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:21851200-21852600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:21851200-21852800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:21851400-21852000	Enhancers	Ovary	ovary
6	chr12:21851400-21852400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:21851400-21852600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:21851400-21852800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:21851600-21852800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:21851600-21852800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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