Variant report

Variant	rs1426597
Chromosome Location	chr8:69988185-69988186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1426601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17620983	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17621769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17621906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17692996	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17693525	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17693837	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17694417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17694566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56288259	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62511794	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62511797	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62511798	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62511799	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62511816	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62511818	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72709940	0.91[AMR][1000 genomes];0.97[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	nsv1031633	chr8:69766575-70322790	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv890987	chr8:69959105-70004698	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69982400-69988200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:69984200-69988200	Enhancers	NHDF-Ad	bronchial
3	chr8:69985000-69991600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:69985600-69988200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:69985600-69992800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:69985800-69988200	Enhancers	Osteobl	bone
7	chr8:69985800-69988400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:69986000-69989000	Enhancers	HSMM	muscle
9	chr8:69986000-69989200	Enhancers	Fetal Lung	lung
10	chr8:69986600-69988200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:69986600-69988200	Enhancers	NHLF	lung
12	chr8:69986800-69990200	Weak transcription	Fetal Heart	heart
13	chr8:69986800-69991600	Weak transcription	HSMMtube	muscle
14	chr8:69987000-69991400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:69987200-69991600	Weak transcription	NH-A	brain
16	chr8:69987800-69989200	Weak transcription	Fetal Stomach	stomach
17	chr8:69988000-69990400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:69988000-69991400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:69988000-69992200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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