Variant report

Variant	rs58760665
Chromosome Location	chr1:196379506-196379507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:196372518..196376500-chr1:196378398..196382162,4	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11802997	0.84[AFR][1000 genomes]
rs11803170	0.84[AFR][1000 genomes]
rs11805373	0.84[AFR][1000 genomes]
rs11806027	0.84[AFR][1000 genomes]
rs11806585	0.84[AFR][1000 genomes]
rs11807621	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11809793	0.84[AFR][1000 genomes]
rs11810883	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35084486	0.84[AFR][1000 genomes]
rs55797122	0.84[AFR][1000 genomes]
rs56287411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56393523	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60185937	0.84[AFR][1000 genomes]
rs74133630	0.84[AFR][1000 genomes]
rs74133633	0.84[AFR][1000 genomes]
rs74133635	0.84[AFR][1000 genomes]
rs74133636	0.84[AFR][1000 genomes]
rs74133641	0.84[AFR][1000 genomes]
rs74133642	0.84[AFR][1000 genomes]
rs74133644	0.81[AFR][1000 genomes]
rs74133650	0.84[AFR][1000 genomes]
rs74133655	0.84[AFR][1000 genomes]
rs74134327	1.00[AMR][1000 genomes]
rs74134328	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74136503	0.84[AFR][1000 genomes]
rs74136506	0.84[AFR][1000 genomes]
rs74136511	0.84[AFR][1000 genomes]
rs74136514	0.84[AFR][1000 genomes]
rs74136530	0.87[AFR][1000 genomes]
rs74136531	0.97[AFR][1000 genomes]
rs74136532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74136534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74136536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74136537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74136538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74136541	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74136546	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74136548	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469680	chr1:196259846-196419016	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv482746	chr1:196259846-196419016	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv872953	chr1:196286639-196411281	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv872954	chr1:196304863-196387809	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv548742	chr1:196339655-196391866	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv872956	chr1:196339655-196411281	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv872957	chr1:196347066-196411281	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3440229	chr1:196379179-196381377	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196358000-196393800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:196372600-196383800	Weak transcription	Liver	Liver
3	chr1:196377200-196398600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:196377600-196390000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:196377600-196392800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:196377600-196403200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:196377800-196402800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:196378000-196393600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:196378200-196400200	Weak transcription	Fetal Kidney	kidney
10	chr1:196379000-196379600	Enhancers	Muscle Satellite Cultured Cells	--

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