Variant report

Variant	rs60189524
Chromosome Location	chr1:45262254-45262255
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	JUN	chr1:45262251-45262913	K562	blood:	n/a	n/a

Variant related genes	Relation type
PLK3	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12404160	0.86[EUR][1000 genomes]
rs12404244	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12407290	0.88[EUR][1000 genomes]
rs17883304	0.88[EUR][1000 genomes]
rs17885815	0.84[EUR][1000 genomes]
rs3795718	0.93[EUR][1000 genomes]
rs3923304	0.88[EUR][1000 genomes]
rs4073112	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4520451	0.86[EUR][1000 genomes]
rs4565758	0.88[EUR][1000 genomes]
rs59803789	0.91[EUR][1000 genomes]
rs6678737	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
3	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
4	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv461406	chr1:45218542-45293518	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
8	nsv546145	chr1:45218542-45293518	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
9	nsv870815	chr1:45233638-45318752	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
10	nsv546146	chr1:45258141-45318752	Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	109 gene(s)	inside rSNPs	diseases
11	nsv871320	chr1:45259295-45274841	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	58 gene(s)	inside rSNPs	diseases
12	nsv870773	chr1:45259295-45287306	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
13	esv3326402	chr1:45260190-45262738	Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
14	esv3408096	chr1:45260315-45263088	Weak transcription Enhancers	TF binding region Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
15	esv3373196	chr1:45260365-45262713	Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45252400-45264200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:45252400-45265200	Weak transcription	Right Atrium	heart
3	chr1:45252400-45265600	Weak transcription	Gastric	stomach
4	chr1:45252600-45264200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:45256000-45264200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:45256000-45264800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:45256000-45265200	Weak transcription	NHEK	skin
8	chr1:45257400-45264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:45259200-45265400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:45259200-45265600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:45259400-45262400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:45259400-45264000	Weak transcription	HepG2	liver
13	chr1:45259400-45264200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:45259400-45264200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:45259400-45264200	Weak transcription	HMEC	breast
16	chr1:45259400-45264400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:45259400-45264400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:45259400-45264600	Weak transcription	Fetal Intestine Large	intestine
19	chr1:45259400-45264600	Weak transcription	Hela-S3	cervix
20	chr1:45259400-45265200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:45259400-45265200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:45259400-45265400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:45259600-45264400	Weak transcription	A549	lung
24	chr1:45259600-45264600	Weak transcription	NH-A	brain
25	chr1:45259600-45264800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:45259600-45264800	Weak transcription	Esophagus	oesophagus
27	chr1:45259600-45265200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:45259600-45265200	Weak transcription	Osteobl	bone
29	chr1:45259800-45264200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:45259800-45265200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:45260600-45264200	Weak transcription	K562	blood
32	chr1:45261200-45265000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:45262200-45262600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:45262200-45262800	Enhancers	Placenta	Placenta

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