Variant report

Variant	rs10059654
Chromosome Location	chr5:118787140-118787141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10478424	0.88[ASN][1000 genomes]
rs28943585	0.94[EUR][1000 genomes]
rs28943586	0.94[EUR][1000 genomes]
rs55700001	0.93[EUR][1000 genomes]
rs55901673	0.93[EUR][1000 genomes]
rs6897978	0.88[ASN][1000 genomes]
rs6898518	0.91[EUR][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	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118775400-118787600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr5:118781600-118788000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:118782400-118787400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:118785400-118787800	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:118785600-118788000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:118785800-118787200	Weak transcription	Liver	Liver
7	chr5:118786000-118787600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:118786000-118788200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:118786200-118787600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr5:118787000-118787200	Enhancers	Dnd41	blood

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

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