Variant report

Variant	rs398860
Chromosome Location	chr13:64651346-64651347
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr13:64651245-64651469	HepG2	liver:	n/a	n/a
2	ZBTB7A	chr13:64651301-64651458	K562	blood:	n/a	n/a
3	NFYB	chr13:64651341-64651639	GM12878	blood:	n/a	n/a
4	PML	chr13:64651191-64651447	K562	blood:	n/a	n/a
5	HEY1	chr13:64651214-64651514	K562	blood:	n/a	n/a
6	NFYB	chr13:64651194-64651726	K562	blood:	n/a	n/a
7	HEY1	chr13:64651237-64651602	HepG2	liver:	n/a	n/a
8	POLR2A	chr13:64650903-64651681	K562	blood:	n/a	n/a
9	POLR2A	chr13:64651231-64651555	HepG2	liver:	n/a	n/a
10	POLR2A	chr13:64651225-64651499	K562	blood:	n/a	n/a
11	HEY1	chr13:64651227-64651525	K562	blood:	n/a	n/a
12	TBP	chr13:64651325-64651679	K562	blood:	n/a	n/a
13	POLR2A	chr13:64651250-64651508	K562	blood:	n/a	n/a
14	POLR2A	chr13:64651215-64651517	K562	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:64642973..64645650-chr13:64650232..64651765,2	K562	blood:

No data

Variant related genes	Relation type
LINC00355	TF binding region

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs11148633	0.83[EUR][1000 genomes]
rs1155302	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12876619	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1508928	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1508929	0.83[ASN][1000 genomes]
rs1508931	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1508934	0.84[EUR][1000 genomes]
rs1508935	0.83[EUR][1000 genomes]
rs1508936	0.84[EUR][1000 genomes]
rs1508941	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs156106	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1588275	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1588276	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1605744	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1605745	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1605746	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs166622	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2000113	0.82[EUR][1000 genomes]
rs2027408	0.81[EUR][1000 genomes]
rs2047181	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2132038	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs269560	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs269563	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs269564	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs269565	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs269568	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs269569	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs269572	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs269574	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs269575	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs269578	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs269597	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs269598	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs269599	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs269600	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs269614	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs269618	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs269626	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs269627	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs269643	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs269646	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs269655	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs272347	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs272388	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs378704	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3850024	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs385577	0.82[EUR][1000 genomes]
rs3926619	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs396590	0.83[EUR][1000 genomes]
rs397570	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs398079	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs398098	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs404185	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4107294	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs413459	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4242919	0.81[EUR][1000 genomes]
rs425825	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs426662	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs430724	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs433561	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs435286	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs452211	0.82[EUR][1000 genomes]
rs4884544	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7321009	0.81[EUR][1000 genomes]
rs7322378	0.81[EUR][1000 genomes]
rs7490780	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7984556	0.91[ASN][1000 genomes]
rs7988377	0.81[EUR][1000 genomes]
rs7995790	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9317383	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9317388	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9317391	0.84[EUR][1000 genomes]
rs9317392	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs932999	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9528702	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9528704	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9528714	0.82[EUR][1000 genomes]
rs9539912	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9539914	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9539917	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9539964	0.81[EUR][1000 genomes]
rs9564131	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9564132	0.81[ASN][1000 genomes]
rs9564139	0.83[EUR][1000 genomes]
rs9571098	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9571099	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9571100	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9571101	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9571102	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9571109	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9571110	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9571111	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9571121	0.82[EUR][1000 genomes]
rs9598710	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9598712	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9598713	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9598732	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9598733	0.84[EUR][1000 genomes]
rs9598734	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900332	chr13:64411616-64856866	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv561964	chr13:64412839-64967458	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1044946	chr13:64419179-64937470	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1038291	chr13:64424127-64937470	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1047229	chr13:64424127-64962138	Enhancers Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1037078	chr13:64424251-64937470	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1036164	chr13:64425528-64933932	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv516171	chr13:64432922-64936243	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv455914	chr13:64432922-65368490	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv561965	chr13:64432922-65368490	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1041541	chr13:64446654-64913526	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv541807	chr13:64446654-64913526	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv994983	chr13:64446655-64913525	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv916348	chr13:64446759-64913520	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv455915	chr13:64455165-64933618	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv561966	chr13:64455165-64933618	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv2763030	chr13:64545539-64719372	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv832634	chr13:64583792-64737416	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv430577	chr13:64602899-65034099	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	esv2754234	chr13:64637596-64901664	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv561967	chr13:64637651-64751527	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	esv2754533	chr13:64641096-64655359	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
23	nsv900337	chr13:64643485-64856866	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64646200-64651400	Active TSS	K562	blood
2	chr13:64648200-64654200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:64648600-64651600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:64650200-64652600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:64650800-64651800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr13:64651000-64653400	Active TSS	HepG2	liver

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