Variant report

Variant	rs160304
Chromosome Location	chr5:29114566-29114567
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10940780	0.89[EUR][1000 genomes]
rs10940782	0.89[EUR][1000 genomes]
rs10940783	0.89[EUR][1000 genomes]
rs12518840	0.89[EUR][1000 genomes]
rs1390658	0.87[EUR][1000 genomes]
rs1390659	0.87[EUR][1000 genomes]
rs1390661	0.87[EUR][1000 genomes]
rs1496417	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs160305	0.90[EUR][1000 genomes]
rs160306	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs160326	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1687612	0.87[EUR][1000 genomes]
rs1687613	0.87[EUR][1000 genomes]
rs1692342	0.87[EUR][1000 genomes]
rs1692345	0.86[EUR][1000 genomes]
rs1692348	0.87[EUR][1000 genomes]
rs177935	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs251062	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs251070	0.81[EUR][1000 genomes]
rs2618418	0.87[EUR][1000 genomes]
rs2644937	0.90[EUR][1000 genomes]
rs2644949	0.87[EUR][1000 genomes]
rs2932806	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs309667	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs309668	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs309669	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs309674	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309683	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs309685	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs309686	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs309689	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs309694	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4507498	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs474325	0.89[EUR][1000 genomes]
rs477865	0.89[EUR][1000 genomes]
rs480650	0.87[EUR][1000 genomes]
rs484786	0.90[EUR][1000 genomes]
rs489449	0.90[EUR][1000 genomes]
rs506533	0.90[EUR][1000 genomes]
rs506623	0.89[EUR][1000 genomes]
rs508549	0.90[EUR][1000 genomes]
rs509431	0.87[EUR][1000 genomes]
rs509455	0.90[EUR][1000 genomes]
rs514676	0.87[EUR][1000 genomes]
rs515977	0.92[EUR][1000 genomes]
rs516107	0.87[EUR][1000 genomes]
rs516178	0.92[EUR][1000 genomes]
rs516480	0.87[EUR][1000 genomes]
rs519037	0.87[EUR][1000 genomes]
rs520652	0.92[EUR][1000 genomes]
rs520670	0.87[EUR][1000 genomes]
rs521714	0.87[EUR][1000 genomes]
rs523336	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs533948	0.90[EUR][1000 genomes]
rs534864	0.90[EUR][1000 genomes]
rs535850	0.90[EUR][1000 genomes]
rs536846	0.90[EUR][1000 genomes]
rs537697	0.90[EUR][1000 genomes]
rs547220	0.86[EUR][1000 genomes]
rs547299	0.86[EUR][1000 genomes]
rs557997	0.87[EUR][1000 genomes]
rs583745	0.90[EUR][1000 genomes]
rs593372	0.86[EUR][1000 genomes]
rs594211	0.87[EUR][1000 genomes]
rs594297	0.87[EUR][1000 genomes]
rs594842	0.90[EUR][1000 genomes]
rs595097	0.85[EUR][1000 genomes]
rs596766	0.90[EUR][1000 genomes]
rs597694	0.90[EUR][1000 genomes]
rs602489	0.87[EUR][1000 genomes]
rs603756	0.87[EUR][1000 genomes]
rs603837	0.87[EUR][1000 genomes]
rs605997	0.86[EUR][1000 genomes]
rs607286	0.87[EUR][1000 genomes]
rs610094	0.90[EUR][1000 genomes]
rs613237	0.81[EUR][1000 genomes]
rs617084	0.87[EUR][1000 genomes]
rs644330	0.90[EUR][1000 genomes]
rs656260	0.92[EUR][1000 genomes]
rs658439	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6868833	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs700897	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs824326	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs824327	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs824329	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs824331	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs824342	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs824343	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880855	chr5:28786844-29129027	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1023990	chr5:28917253-29220447	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv597750	chr5:28936053-29145655	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1024307	chr5:28936195-29145676	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1027037	chr5:28936195-29147837	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv597751	chr5:28941373-29144972	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1015334	chr5:28951390-29139719	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv537711	chr5:28951390-29139719	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv523085	chr5:28955799-29145655	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv880921	chr5:28959648-29129027	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv471009	chr5:29040955-29116706	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv880987	chr5:29051880-29129027	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv3528360	chr5:29069255-29548659	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
14	esv3528361	chr5:29069255-29548659	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
15	nsv980623	chr5:29074785-29130590	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1022253	chr5:29076460-29195987	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	esv3329014	chr5:29088244-29117762	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
18	esv3387003	chr5:29088244-29137649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv1016603	chr5:29102713-29843965	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
20	nsv537712	chr5:29102713-29843965	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29114000-29115000	Flanking Active TSS	Hela-S3	cervix
2	chr5:29114000-29115400	Enhancers	K562	blood
3	chr5:29114200-29114800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:29114400-29114800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:29114400-29116000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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