Variant report

Variant	rs73065837
Chromosome Location	chr1:196314786-196314787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10922057	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11801881	0.82[EUR][1000 genomes]
rs11806479	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127589	0.81[EUR][1000 genomes]
rs16839682	0.85[ASN][1000 genomes]
rs16839685	0.85[ASN][1000 genomes]
rs16839693	0.85[ASN][1000 genomes]
rs16839700	0.85[ASN][1000 genomes]
rs16839771	1.00[ASN][1000 genomes]
rs16839782	1.00[ASN][1000 genomes]
rs16839791	1.00[ASN][1000 genomes]
rs16839822	1.00[ASN][1000 genomes]
rs2296269	1.00[ASN][1000 genomes]
rs41451950	1.00[ASN][1000 genomes]
rs4379659	0.82[EUR][1000 genomes]
rs61328263	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61710289	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73065831	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74133631	0.85[ASN][1000 genomes]
rs7527779	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544651	0.82[EUR][1000 genomes]
rs7552975	0.82[EUR][1000 genomes]
rs9725530	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832237	chr1:196205674-196328500	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	esv1826904	chr1:196291977-196371432	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
7	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
8	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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196303200-196332600	Weak transcription	Ovary	ovary
2	chr1:196309200-196315600	Weak transcription	Liver	Liver
3	chr1:196310600-196317400	Weak transcription	Fetal Brain Male	brain
4	chr1:196311000-196314800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:196311200-196314800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:196311200-196315000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:196313000-196314800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:196313600-196314800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:196314200-196314800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:196314400-196314800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:196314400-196314800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:196314600-196315000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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