Variant report

Variant	rs8005074
Chromosome Location	chr14:70358446-70358447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1296571	1.00[GIH][hapmap]
rs1958080	0.82[AFR][1000 genomes]
rs1958081	1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59691011	1.00[EUR][1000 genomes]
rs59997769	0.88[AFR][1000 genomes]
rs61980568	0.82[AFR][1000 genomes]
rs61980569	0.82[AFR][1000 genomes]
rs61980576	0.88[AFR][1000 genomes]
rs7142807	1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154248	0.91[AMR][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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70350200-70361600	Weak transcription	Brain Germinal Matrix	brain
2	chr14:70356200-70358800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:70356400-70358600	Weak transcription	Liver	Liver
4	chr14:70356400-70361200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:70356800-70362200	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:70357600-70360000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:70357600-70361600	Weak transcription	HMEC	breast
8	chr14:70357600-70362800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:70358200-70358600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:70358200-70359200	Enhancers	Brain Cingulate Gyrus	brain
11	chr14:70358400-70359200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:70358400-70359400	Strong transcription	Hela-S3	cervix
13	chr14:70358400-70369400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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