Variant report

Variant	rs6690817
Chromosome Location	chr1:170286446-170286447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10494485	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10919355	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10919356	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10919357	0.85[AMR][1000 genomes]
rs10919358	0.85[AMR][1000 genomes]
rs12070350	0.81[AFR][1000 genomes]
rs12085525	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12085537	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12089288	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12094851	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12095625	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16863271	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16863272	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28595176	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28643534	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6657301	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6666779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6666937	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6667169	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6691470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6700231	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6703181	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6703200	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170282400-170287800	Weak transcription	NHDF-Ad	bronchial
2	chr1:170285600-170287000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:170285600-170287200	Weak transcription	Osteobl	bone
4	chr1:170286000-170287200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:170286000-170287400	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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