Variant report

Variant	rs72950669
Chromosome Location	chr1:86266720-86266721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1871763	1.00[AMR][1000 genomes]
rs2389988	0.87[AMR][1000 genomes]
rs60040360	1.00[AMR][1000 genomes]
rs6676291	1.00[AMR][1000 genomes]
rs6700984	1.00[AMR][1000 genomes]
rs72950609	0.85[AMR][1000 genomes]
rs72950630	0.85[AMR][1000 genomes]
rs72950673	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950680	0.85[AMR][1000 genomes]
rs72950683	0.85[AMR][1000 genomes]
rs72950695	0.85[AMR][1000 genomes]
rs72952569	0.87[AMR][1000 genomes]
rs72952570	0.87[AMR][1000 genomes]
rs7527665	0.85[AMR][1000 genomes]
rs7551155	0.85[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv546721	chr1:86226352-86392577	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv999743	chr1:86241246-86364846	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86257200-86274000	Weak transcription	Fetal Lung	lung
2	chr1:86257400-86266800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:86262800-86268600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:86263400-86272200	Weak transcription	GM12878-XiMat	blood
5	chr1:86264600-86272600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:86264800-86267600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:86265800-86272400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:86266200-86267200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:86266200-86267600	Enhancers	NHDF-Ad	bronchial

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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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