Variant report

Variant	rs1566578
Chromosome Location	chr19:51749589-51749590
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:51749460-51749695	K562	blood:	n/a	n/a
2	EP300	chr19:51749357-51749772	K562	blood:	n/a	n/a
3	TAL1	chr19:51749389-51749748	K562	blood:	n/a	chr19:51749521-51749536 chr19:51749522-51749533 chr19:51749524-51749535 chr19:51749521-51749536 chr19:51749521-51749536
4	BHLHE40	chr19:51749425-51749710	K562	blood:	n/a	n/a
5	BACH1	chr19:51749450-51749769	K562	blood:	n/a	n/a
6	MAFK	chr19:51749400-51749758	K562	blood:	n/a	chr19:51749574-51749589 chr19:51749579-51749588
7	ZNF143	chr19:51749479-51749698	K562	blood:	n/a	n/a
8	MYC	chr19:51749297-51749783	NB4	blood:	n/a	n/a
9	ATF1	chr19:51749426-51749685	K562	blood:	n/a	n/a
10	RCOR1	chr19:51749419-51749843	K562	blood:	n/a	n/a
11	RCOR1	chr19:51749451-51749701	K562	blood:	n/a	n/a
12	TBL1XR1	chr19:51749333-51749765	K562	blood:	n/a	n/a
13	ELF1	chr19:51749318-51749686	K562	blood:	n/a	n/a
14	MYC	chr19:51749489-51749663	K562	blood:	n/a	n/a
15	CTCF	chr19:51749436-51749658	K562	blood:	n/a	chr19:51749520-51749538
16	MAX	chr19:51749343-51749747	NB4	blood:	n/a	n/a
17	JUND	chr19:51749403-51749783	K562	blood:	n/a	chr19:51749581-51749589 chr19:51749579-51749591
18	TEAD4	chr19:51749317-51749819	K562	blood:	n/a	n/a
19	NR2F2	chr19:51749271-51749891	K562	blood:	n/a	n/a
20	CEBPB	chr19:51749401-51749749	K562	blood:	n/a	chr19:51749441-51749449
21	POLR2A	chr19:51749290-51749875	HL-60	blood:	n/a	n/a
22	UBTF	chr19:51749514-51749622	K562	blood:	n/a	n/a
23	TRIM28	chr19:51749414-51749689	K562	blood:	n/a	n/a
24	IRF1	chr19:51748967-51749695	K562	blood:	n/a	chr19:51749441-51749450
25	POLR2A	chr19:51749317-51749861	HL-60	blood:	n/a	n/a
26	MAFF	chr19:51749385-51749808	K562	blood:	n/a	n/a
27	MAFK	chr19:51749583-51749595	HepG2	liver:	n/a	n/a
28	YY1	chr19:51749503-51749700	K562	blood:	n/a	n/a
29	CEBPB	chr19:51749425-51749796	K562	blood:	n/a	chr19:51749441-51749449
30	JUN	chr19:51749417-51749709	K562	blood:	n/a	chr19:51749581-51749589 chr19:51749579-51749591

Variant related genes	Relation type
SIGLECL1	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1034521	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10402797	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10406897	0.94[GIH][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs10412123	1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10412214	0.82[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs11084061	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11084062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11084063	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];0.84[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11084064	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11668174	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11672446	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12461282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461354	0.82[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1319675	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1501447	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1501448	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1501449	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17801843	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1803254	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34606577	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7253831	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7256372	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7256512	0.93[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73612300	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8103085	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9676731	1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs989502	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989504	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51745400-51753200	Enhancers	Primary hematopoietic stem cells	blood
2	chr19:51745800-51754000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr19:51746400-51750600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:51748800-51749800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr19:51748800-51749800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:51748800-51749800	Enhancers	Adipose Nuclei	Adipose
7	chr19:51748800-51749800	Enhancers	Fetal Thymus	thymus
8	chr19:51748800-51749800	Enhancers	K562	blood
9	chr19:51748800-51750600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr19:51748800-51750800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr19:51749000-51749800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:51749000-51749800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr19:51749200-51749600	Enhancers	Primary B cells from cord blood	blood
14	chr19:51749200-51750600	Enhancers	Fetal Kidney	kidney
15	chr19:51749400-51749800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr19:51749400-51749800	Enhancers	Colon Smooth Muscle	Colon
17	chr19:51749400-51753400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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