Variant report

Variant	rs57120231
Chromosome Location	chr5:152002416-152002417
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:8)

rs_ID	r²[population]
rs12514629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519548	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56828623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59545502	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862247	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877182	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896282	1.00[EUR][1000 genomes];1.00[ASN][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	nsv1023676	chr5:151979253-152925064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv537927	chr5:151979253-152925064	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151999400-152002600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:151999400-152002600	Enhancers	Fetal Lung	lung
3	chr5:151999400-152004200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:151999800-152002600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:152000800-152002600	Enhancers	Brain Germinal Matrix	brain
6	chr5:152001200-152002600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:152001800-152002600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:152001800-152002600	Enhancers	Brain Anterior Caudate	brain
9	chr5:152002000-152002600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:152002000-152002600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:152002000-152002600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:152002000-152002600	Enhancers	Brain Hippocampus Middle	brain
13	chr5:152002000-152002600	Enhancers	Brain Substantia Nigra	brain
14	chr5:152002200-152002600	Enhancers	Brain Angular Gyrus	brain
15	chr5:152002200-152005400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:152002400-152002800	Enhancers	Fetal Brain Male	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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