Variant report

Variant	rs16898214
Chromosome Location	chr8:124296434-124296435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55877745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57012943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57790492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57891828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59703567	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7838835	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 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	chr8:124287800-124301200	Weak transcription	Esophagus	oesophagus
2	chr8:124288200-124298200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:124288200-124298400	Weak transcription	Right Atrium	heart
4	chr8:124289400-124296800	Weak transcription	Brain Substantia Nigra	brain
5	chr8:124289400-124297000	Weak transcription	Brain Germinal Matrix	brain
6	chr8:124289400-124298000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:124291600-124296800	Weak transcription	Brain Anterior Caudate	brain
8	chr8:124291600-124297400	Weak transcription	Brain Angular Gyrus	brain
9	chr8:124292000-124296800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:124292000-124296800	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:124295200-124297000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:124295200-124297200	Weak transcription	K562	blood
13	chr8:124295200-124300600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:124295400-124301800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:124296000-124298600	Enhancers	Fetal Brain Male	brain
16	chr8:124296200-124296800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:124296200-124296800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:124296200-124297000	Enhancers	Fetal Brain Female	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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