Variant report

Variant	rs16919406
Chromosome Location	chr8:54502863-54502864
allele	A/T
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:6)

rs_ID	r²[population]
rs4873255	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4873263	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4873767	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473857	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73602457	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7459784	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813750	chr8:54471135-54528984	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54501000-54504400	Weak transcription	Fetal Heart	heart
2	chr8:54501200-54503600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:54501200-54504000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:54501200-54505000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:54501400-54503800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:54502000-54503000	Enhancers	Rectal Smooth Muscle	rectum
7	chr8:54502000-54503200	Enhancers	Fetal Muscle Leg	muscle
8	chr8:54502200-54503000	Enhancers	Colon Smooth Muscle	Colon
9	chr8:54502200-54503200	Enhancers	Right Atrium	heart
10	chr8:54502200-54503200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:54502200-54503400	Enhancers	Fetal Lung	lung
12	chr8:54502200-54503400	Enhancers	Ovary	ovary
13	chr8:54502400-54503400	Enhancers	Aorta	Aorta
14	chr8:54502400-54504000	Weak transcription	Pancreas	Pancrea
15	chr8:54502400-54504400	Enhancers	GM12878-XiMat	blood
16	chr8:54502600-54503000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:54502800-54503000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:54502800-54503000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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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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