Variant report

Variant	rs10130729
Chromosome Location	chr14:70307792-70307793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10131029	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10134740	0.93[EUR][1000 genomes]
rs10141725	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10145497	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10148661	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11622447	0.87[ASN][1000 genomes]
rs11625824	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs11844404	0.88[ASN][1000 genomes]
rs11844452	0.88[ASN][1000 genomes]
rs2094272	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2332169	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34505658	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4499177	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55686787	0.88[ASN][1000 genomes]
rs61646517	0.88[ASN][1000 genomes]
rs67364517	0.88[ASN][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	esv3440726	chr14:70304199-70308597	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70306400-70311200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:70306600-70307800	Enhancers	Brain Germinal Matrix	brain
3	chr14:70306600-70308200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:70306600-70310600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr14:70306800-70308400	Enhancers	HepG2	liver
6	chr14:70307200-70310800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:70307400-70309200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:70307600-70308000	Bivalent Enhancer	Fetal Kidney	kidney
9	chr14:70307600-70311200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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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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