Variant report

Variant	rs1854973
Chromosome Location	chr13:92459574-92459575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1332091	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1394888	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1505565	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168278	0.84[ASN][1000 genomes]
rs168279	0.85[ASN][1000 genomes]
rs173141	0.85[ASN][1000 genomes]
rs1827755	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182926	0.81[ASN][1000 genomes]
rs1831563	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1831564	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1831565	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1831566	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1847714	0.85[ASN][1000 genomes]
rs1847715	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1847716	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1847717	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1854971	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1854972	0.90[EUR][1000 genomes]
rs1854976	0.85[ASN][1000 genomes]
rs1854978	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1854979	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs189376	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1929922	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1929923	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1929924	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1929925	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1988500	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2352030	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2352202	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2352203	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2938868	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2938869	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2938873	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2938874	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2989991	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2989992	0.85[ASN][1000 genomes]
rs2989993	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2989994	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2989995	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2989996	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2989997	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2989998	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2990003	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3012005	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs342672	0.85[ASN][1000 genomes]
rs342702	0.81[ASN][1000 genomes]
rs345443	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs345449	0.85[ASN][1000 genomes]
rs345450	0.83[ASN][1000 genomes]
rs400118	0.85[ASN][1000 genomes]
rs439700	0.85[ASN][1000 genomes]
rs459137	0.85[ASN][1000 genomes]
rs522812	0.81[ASN][1000 genomes]
rs539065	0.85[ASN][1000 genomes]
rs556483	0.85[ASN][1000 genomes]
rs556722	0.85[ASN][1000 genomes]
rs560244	0.85[ASN][1000 genomes]
rs570196	0.85[ASN][1000 genomes]
rs7336461	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7981572	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7995788	0.88[EUR][1000 genomes]
rs9301755	0.87[EUR][1000 genomes]
rs9301756	0.90[EUR][1000 genomes]
rs9515973	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9515975	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9560863	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049382	chr13:92024240-92521180	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv541873	chr13:92024240-92521180	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2753383	chr13:92226599-92462699	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv529268	chr13:92267310-92531263	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv456065	chr13:92383193-92507887	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv562719	chr13:92383193-92507887	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv948820	chr13:92408505-92519053	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv524271	chr13:92419769-92501664	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv562720	chr13:92419769-92501664	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1036226	chr13:92421721-92501284	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1053048	chr13:92421721-92501558	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1053597	chr13:92421721-92502205	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv3378326	chr13:92445514-92816367	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv1800684	chr13:92450566-92460111	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92457400-92460600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr13:92457400-92465600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:92458000-92463800	Weak transcription	Fetal Heart	heart
4	chr13:92458000-92464000	Weak transcription	Fetal Lung	lung
5	chr13:92458400-92459600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:92458400-92459800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:92459000-92463600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr13:92459200-92465000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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