Variant report

Variant	rs309683
Chromosome Location	chr5:29149947-29149948
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	chr5:29144357..29145929-chr5:29148245..29150453,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10940780	0.90[EUR][1000 genomes]
rs10940782	0.90[EUR][1000 genomes]
rs10940783	0.90[EUR][1000 genomes]
rs12518840	0.90[EUR][1000 genomes]
rs1390658	0.89[EUR][1000 genomes]
rs1390659	0.89[EUR][1000 genomes]
rs1390661	0.89[EUR][1000 genomes]
rs1496417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs160304	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs160305	0.92[EUR][1000 genomes]
rs160306	0.94[EUR][1000 genomes]
rs160326	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1687612	0.89[EUR][1000 genomes]
rs1687613	0.89[EUR][1000 genomes]
rs1692342	0.89[EUR][1000 genomes]
rs1692345	0.88[EUR][1000 genomes]
rs1692348	0.89[EUR][1000 genomes]
rs177935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs251062	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs251070	0.82[EUR][1000 genomes]
rs2618418	0.89[EUR][1000 genomes]
rs2644937	0.92[EUR][1000 genomes]
rs2644949	0.89[EUR][1000 genomes]
rs2932806	0.93[EUR][1000 genomes]
rs309667	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309668	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309669	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309674	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs309685	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309689	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309694	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4507498	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs474325	0.90[EUR][1000 genomes]
rs477865	0.90[EUR][1000 genomes]
rs480650	0.89[EUR][1000 genomes]
rs484786	0.92[EUR][1000 genomes]
rs489449	0.92[EUR][1000 genomes]
rs506533	0.92[EUR][1000 genomes]
rs506623	0.90[EUR][1000 genomes]
rs508549	0.92[EUR][1000 genomes]
rs509431	0.89[EUR][1000 genomes]
rs509455	0.92[EUR][1000 genomes]
rs514676	0.89[EUR][1000 genomes]
rs515977	0.93[EUR][1000 genomes]
rs516107	0.89[EUR][1000 genomes]
rs516178	0.93[EUR][1000 genomes]
rs516480	0.89[EUR][1000 genomes]
rs519037	0.89[EUR][1000 genomes]
rs520652	0.93[EUR][1000 genomes]
rs520670	0.89[EUR][1000 genomes]
rs521714	0.89[EUR][1000 genomes]
rs523336	0.93[EUR][1000 genomes]
rs533948	0.92[EUR][1000 genomes]
rs534864	0.92[EUR][1000 genomes]
rs535850	0.92[EUR][1000 genomes]
rs536846	0.92[EUR][1000 genomes]
rs537697	0.92[EUR][1000 genomes]
rs547220	0.88[EUR][1000 genomes]
rs547299	0.88[EUR][1000 genomes]
rs557997	0.89[EUR][1000 genomes]
rs583745	0.92[EUR][1000 genomes]
rs593372	0.88[EUR][1000 genomes]
rs594211	0.89[EUR][1000 genomes]
rs594297	0.89[EUR][1000 genomes]
rs594842	0.92[EUR][1000 genomes]
rs595097	0.87[EUR][1000 genomes]
rs596766	0.92[EUR][1000 genomes]
rs597694	0.92[EUR][1000 genomes]
rs602489	0.89[EUR][1000 genomes]
rs603756	0.89[EUR][1000 genomes]
rs603837	0.89[EUR][1000 genomes]
rs605997	0.88[EUR][1000 genomes]
rs607286	0.89[EUR][1000 genomes]
rs610094	0.92[EUR][1000 genomes]
rs613237	0.83[EUR][1000 genomes]
rs617084	0.89[EUR][1000 genomes]
rs644330	0.92[EUR][1000 genomes]
rs656260	0.93[EUR][1000 genomes]
rs658439	0.93[EUR][1000 genomes]
rs6868833	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs700897	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs824326	0.95[EUR][1000 genomes]
rs824327	0.95[EUR][1000 genomes]
rs824329	0.93[EUR][1000 genomes]
rs824331	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs824342	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs824343	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	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
2	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
3	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
4	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
5	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
6	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
7	nsv1030526	chr5:29125802-29204186	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv964827	chr5:29138557-29198352	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29144000-29150600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:29146800-29150600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:29148000-29151400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr5:29148600-29151400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:29148800-29150800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:29148800-29151000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:29149000-29150200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:29149000-29150200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:29149000-29151600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:29149200-29153400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:29149400-29151400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:29149600-29150800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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