Variant report

Variant	rs58740255
Chromosome Location	chr4:79013915-79013916
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10518186	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10518187	0.95[ASN][1000 genomes]
rs17002933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17002934	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17002936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17002939	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17002940	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17002949	1.00[ASN][1000 genomes]
rs17002950	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17002955	1.00[ASN][1000 genomes]
rs17002961	0.93[ASN][1000 genomes]
rs17002976	0.89[ASN][1000 genomes]
rs1996390	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4552489	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4631075	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4640694	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56304889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56350977	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56905033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57165692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57539827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57619651	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57747683	1.00[ASN][1000 genomes]
rs58069750	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs58858744	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59086902	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59584338	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59939614	0.90[ASN][1000 genomes]
rs60366235	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60596658	1.00[AMR][1000 genomes]
rs60638360	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72860603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72860604	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72860615	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72860619	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72860622	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72860623	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72860640	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7696002	0.95[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	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv520625	chr4:79002655-79071788	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78981200-79016600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:78995800-79015800	Weak transcription	HepG2	liver
3	chr4:79001600-79014200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:79003000-79016800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:79007000-79015800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:79011000-79014200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr4:79011400-79016600	Weak transcription	Fetal Intestine Small	intestine
8	chr4:79013200-79014000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:79013200-79014000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr4:79013200-79014000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:79013200-79014200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr4:79013200-79014600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:79013200-79015000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:79013400-79014000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:79013600-79014000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:79013600-79014000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr4:79013600-79014200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:79013600-79014400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:79013600-79014600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:79013600-79014600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr4:79013600-79015000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:79013600-79015000	Enhancers	Fetal Heart	heart
23	chr4:79013800-79014000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr4:79013800-79014400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:79013800-79014600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr4:79013800-79014600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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