Variant report

Variant	rs58024147
Chromosome Location	chr1:159769396-159769397
allele	C/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	CTCF	chr1:159768331-159769406	HCT-116	colon:	n/a	chr1:159768780-159768796 chr1:159768922-159768940 chr1:159768781-159768802 chr1:159768779-159768797
2	RAD21	chr1:159768423-159769414	SK-N-SH	brain:	n/a	chr1:159768780-159768799
3	STAT3	chr1:159769345-159769505	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F4	chr1:159769313-159769428	MCF10A-Er-Src	breast:	n/a	n/a
5	CTCF	chr1:159769340-159769490	GM06990	blood:	n/a	n/a
6	CTCF	chr1:159768192-159769475	A549	lung:	n/a	chr1:159768780-159768796 chr1:159768922-159768940 chr1:159768781-159768802 chr1:159768779-159768797
7	CTCF	chr1:159768236-159769530	SK-N-SH	brain:	n/a	chr1:159768780-159768796 chr1:159768922-159768940 chr1:159768781-159768802 chr1:159768779-159768797
8	CEBPB	chr1:159769290-159769577	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:159767764..159770005-chr1:159860953..159862581,56	MCF-7	breast:
2	chr1:159767618..159769808-chr1:159861062..159862249,21	MCF-7	breast:
3	chr1:159768768..159770539-chr1:159892719..159895162,2	K562	blood:
4	chr1:159767829..159770101-chr1:159851843..159854552,2	MCF-7	breast:
5	chr1:159768046..159769566-chr1:159975811..159977855,12	K562	blood:
6	chr1:159768310..159769697-chr1:159798745..159799727,11	MCF-7	breast:
7	chr1:159767187..159770392-chr1:159770720..159774821,3	K562	blood:
8	chr1:159760951..159764398-chr1:159766034..159769710,4	K562	blood:

Variant related genes	Relation type
FCRL6	TF binding region
ENSG00000181036	Chromatin interaction
ENSG00000158710	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11265280	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11265282	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585836	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11590202	0.81[ASN][1000 genomes]
rs11590961	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12083595	0.83[ASN][1000 genomes]
rs12083967	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12090961	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2494519	0.81[EUR][1000 genomes]
rs4301626	0.83[ASN][1000 genomes]
rs4443889	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4656851	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55650803	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57198275	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58240276	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59414252	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6656168	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6656979	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6657365	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6659704	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672434	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6692290	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7512164	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[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	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv521503	chr1:159762120-159795478	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159765600-159770000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:159768400-159771400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:159768600-159770200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:159768800-159770000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:159768800-159770000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr1:159768800-159770200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:159768800-159770200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr1:159768800-159770400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:159768800-159770600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:159768800-159770600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:159768800-159770600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:159768800-159770800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:159768800-159770800	Enhancers	Fetal Thymus	thymus
14	chr1:159768800-159771000	Enhancers	Primary T cells from cord blood	blood
15	chr1:159768800-159771200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:159768800-159771400	Enhancers	Thymus	Thymus
17	chr1:159769000-159769800	Enhancers	NHDF-Ad	bronchial
18	chr1:159769000-159770600	Enhancers	GM12878-XiMat	blood
19	chr1:159769000-159770600	Enhancers	Osteobl	bone
20	chr1:159769000-159770800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:159769000-159771000	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr1:159769000-159773200	Weak transcription	Placenta	Placenta
23	chr1:159769200-159769600	Weak transcription	Duodenum Mucosa	Duodenum

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