Variant report

Variant	rs10050517
Chromosome Location	chr5:90620309-90620310
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10038890	0.84[ASN][1000 genomes]
rs10045280	0.85[CEU][hapmap]
rs10072084	0.82[CHB][hapmap];0.83[MEX][hapmap]
rs10473943	0.82[CHB][hapmap]
rs10474342	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs11740007	0.82[CHB][hapmap]
rs11740321	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs12514092	0.80[CHB][hapmap]
rs12697808	0.85[ASN][1000 genomes]
rs13164949	0.81[CHB][hapmap]
rs1473047	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2367292	0.86[CHB][hapmap];0.88[MEX][hapmap]
rs4639266	0.85[ASN][1000 genomes]
rs4916855	0.83[ASN][1000 genomes]
rs4916856	0.83[ASN][1000 genomes]
rs4916858	0.91[CHB][hapmap];0.86[CHD][hapmap]
rs4916859	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs973332	0.86[CHB][hapmap];0.88[MEX][hapmap]
rs997737	0.86[CHB][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv441956	chr5:90614420-90621065	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2421594	chr5:90614420-90621069	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv514314	chr5:90614756-90620964	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv21145	chr5:90618564-90623946	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90613800-90624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:90619000-90629200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:90619400-90620600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:90620000-90620400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:90620000-90620600	Weak transcription	Fetal Stomach	stomach
6	chr5:90620000-90621200	Enhancers	Stomach Smooth Muscle	stomach
7	chr5:90620200-90620400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:90620200-90620400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:90620200-90620400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:90620200-90620400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:90620200-90620600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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