Variant report

Variant	rs11988447
Chromosome Location	chr8:39935925-39935926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11989147	1.00[EUR][1000 genomes]
rs11990694	1.00[EUR][1000 genomes]
rs11996873	1.00[EUR][1000 genomes]
rs13254133	1.00[EUR][1000 genomes]
rs4467925	1.00[EUR][1000 genomes]
rs59010645	1.00[EUR][1000 genomes]
rs59936756	1.00[EUR][1000 genomes]
rs60420552	1.00[EUR][1000 genomes]
rs6983759	1.00[EUR][1000 genomes]
rs6987500	1.00[EUR][1000 genomes]
rs7814906	1.00[EUR][1000 genomes]
rs7844209	1.00[EUR][1000 genomes]
rs9298589	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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39913000-39939000	Weak transcription	Right Atrium	heart
2	chr8:39930000-39937800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:39935600-39936600	Flanking Active TSS	A549	lung

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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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