Variant report

Variant	rs74136528
Chromosome Location	chr1:196335210-196335211
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:196329014..196330703-chr1:196333342..196336089,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11802442	1.00[AMR][1000 genomes]
rs11803170	1.00[AMR][1000 genomes]
rs11806027	1.00[AMR][1000 genomes]
rs11806529	0.91[AFR][1000 genomes]
rs11806585	1.00[AMR][1000 genomes]
rs55633678	0.85[AFR][1000 genomes]
rs60185937	1.00[AMR][1000 genomes]
rs74133658	0.85[AFR][1000 genomes]
rs74133659	0.81[AFR][1000 genomes]
rs74134367	1.00[AMR][1000 genomes]
rs74136503	1.00[AMR][1000 genomes]
rs74136504	0.89[AFR][1000 genomes]
rs74136505	0.89[AFR][1000 genomes]
rs74136506	1.00[AMR][1000 genomes]
rs74136508	1.00[AMR][1000 genomes]
rs74136509	0.91[AFR][1000 genomes]
rs74136511	1.00[AMR][1000 genomes]
rs74136514	1.00[AMR][1000 genomes]
rs74136516	0.91[AFR][1000 genomes]
rs74136529	1.00[AFR][1000 genomes]
rs74136530	1.00[AMR][1000 genomes]
rs74136533	1.00[AMR][1000 genomes]
rs7529694	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	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
7	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196327200-196342400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:196334000-196335800	Weak transcription	Liver	Liver
3	chr1:196334000-196342400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:196334800-196337200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:196335200-196337400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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