Variant report

Variant	rs814440
Chromosome Location	chr8:69269381-69269382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1517129	0.86[CEU][hapmap]
rs17467559	0.86[CEU][hapmap]
rs1980177	0.82[EUR][1000 genomes]
rs2243700	0.86[CEU][hapmap]
rs2243702	0.82[CEU][hapmap]
rs2246592	1.00[CEU][hapmap]
rs2255882	0.89[CEU][hapmap]
rs2591010	0.86[CEU][hapmap]
rs2591014	0.89[CEU][hapmap]
rs2591019	0.89[CEU][hapmap]
rs2591020	1.00[CEU][hapmap]
rs2591021	0.86[CEU][hapmap]
rs2591022	0.80[EUR][1000 genomes]
rs2591024	0.89[CEU][hapmap]
rs2591025	0.82[EUR][1000 genomes]
rs2676633	0.80[EUR][1000 genomes]
rs2676650	0.89[CEU][hapmap]
rs2676654	0.89[CEU][hapmap]
rs814442	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][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	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1031040	chr8:69265471-69315554	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv508512	chr8:69268794-69324532	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69268000-69270600	Weak transcription	NHLF	lung
2	chr8:69268200-69270400	Weak 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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