Variant report

Variant	rs7000976
Chromosome Location	chr8:69926422-69926423
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs6987044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6997850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6997851	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7000840	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7005017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7013351	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7827817	1.00[AMR][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	esv33049	chr8:69836813-69943360	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr8:69906400-69928400	Weak transcription	HSMM	muscle
2	chr8:69921000-69927000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr8:69921800-69930400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:69923200-69930600	Weak transcription	Osteobl	bone
5	chr8:69926000-69926600	Enhancers	Esophagus	oesophagus

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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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