Variant report

Variant	rs12097685
Chromosome Location	chr1:215268693-215268694
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:18)

rs_ID	r²[population]
rs10465699	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11120491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11120493	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11120505	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064019	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12069967	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12086417	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12239750	0.82[AFR][1000 genomes]
rs17024306	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55777551	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55804708	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59564038	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60799931	1.00[EUR][1000 genomes]
rs74140931	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140935	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140936	1.00[EUR][1000 genomes]
rs74140938	1.00[EUR][1000 genomes]
rs74143657	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754411	chr1:215235605-215281605	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv873169	chr1:215264486-215453286	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215258200-215277600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:215258400-215277600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:215265400-215280800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:215266200-215269400	Weak transcription	Fetal Brain Female	brain
5	chr1:215266600-215276000	Weak transcription	NHDF-Ad	bronchial
6	chr1:215267800-215269600	Enhancers	Fetal Brain Male	brain
7	chr1:215268000-215269400	Strong transcription	Osteobl	bone
8	chr1:215268000-215270200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:215268600-215269800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:215268600-215270600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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