Variant report

Variant	rs4660299
Chromosome Location	chr1:45747518-45747519
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45747190..45749487-chr1:45762522..45764661,3	K562	blood:
2	chr1:45445644..45447946-chr1:45746715..45748640,2	K562	blood:
3	chr1:45739797..45741370-chr1:45746426..45748499,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17394390	0.85[EUR][1000 genomes]
rs1938299	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2096435	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4660298	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4660840	0.85[EUR][1000 genomes]
rs58612171	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61789768	0.81[EUR][1000 genomes]
rs61789775	0.85[EUR][1000 genomes]
rs61789777	0.85[EUR][1000 genomes]
rs61789778	0.85[EUR][1000 genomes]
rs61789782	0.82[EUR][1000 genomes]
rs61789785	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61789788	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61789789	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61789808	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61789809	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61789814	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61789816	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61789817	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61789818	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61789819	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61789820	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61789821	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61789822	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61789826	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61789830	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6429564	0.90[ASN][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	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
4	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv3406025	chr1:45739908-45763848	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	6 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	chr1:45732400-45748000	Weak transcription	Right Atrium	heart
2	chr1:45741000-45750800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:45741800-45749000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:45747200-45749000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:45747400-45747800	Enhancers	Ovary	ovary

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