Variant report

Variant	rs4749379
Chromosome Location	chr10:5871547-5871548
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5867636..5869273-chr10:5869585..5872452,2	K562	blood:
2	chr10:5871204..5872899-chr10:5874747..5877637,3	K562	blood:
3	chr10:5870260..5872899-chr10:5873504..5877637,4	K562	blood:
4	chr10:5869665..5872246-chr10:5873304..5875744,2	MCF-7	breast:
5	chr10:5867148..5869892-chr10:5869961..5872414,3	MCF-7	breast:
6	chr10:5869850..5872422-chr10:5929194..5931187,2	MCF-7	breast:
7	chr10:5854450..5857183-chr10:5867124..5872976,6	MCF-7	breast:
8	chr10:5853933..5861862-chr10:5868343..5873668,10	K562	blood:
9	chr10:5867768..5870710-chr10:5870936..5873255,3	MCF-7	breast:
10	chr10:5857210..5863651-chr10:5869000..5872361,6	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1129614	0.88[CHB][hapmap];1.00[YRI][hapmap]
rs1858446	0.94[CHB][hapmap];0.85[YRI][hapmap]
rs3793707	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap]
rs4748572	0.94[CHB][hapmap];1.00[YRI][hapmap]
rs55659521	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55834056	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58859669	0.81[EUR][1000 genomes]
rs72772400	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

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	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv549896	chr10:5820394-5880066	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv5654	chr10:5868365-5930634	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4749379	GDI2	cis	Artery Tibial	GTEx
rs4749379	GDI2	cis	Whole Blood	GTEx
rs4749379	GDI2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5870200-5875000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:5871200-5872800	Enhancers	HepG2	liver
3	chr10:5871400-5871800	Enhancers	Pancreas	Pancrea
4	chr10:5871400-5872400	Enhancers	K562	blood

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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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