Variant report

Variant	rs74015620
Chromosome Location	chr15:52474663-52474664
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	MYC	chr15:52474572-52474698	HepG2	liver:	n/a	chr15:52474598-52474608 chr15:52474597-52474607 chr15:52474598-52474609 chr15:52474599-52474608 chr15:52474594-52474613 chr15:52474599-52474608 chr15:52474598-52474609 chr15:52474598-52474608 chr15:52474600-52474607 chr15:52474598-52474609
2	MAX	chr15:52474314-52474867	HepG2	liver:	n/a	chr15:52474598-52474608 chr15:52474597-52474607 chr15:52474598-52474609 chr15:52474599-52474608 chr15:52474594-52474613 chr15:52474599-52474608 chr15:52474598-52474609 chr15:52474598-52474608 chr15:52474600-52474607 chr15:52474598-52474609
3	MAX	chr15:52474555-52474705	NB4	blood:	n/a	chr15:52474598-52474608 chr15:52474597-52474607 chr15:52474598-52474609 chr15:52474599-52474608 chr15:52474594-52474613 chr15:52474599-52474608 chr15:52474598-52474609 chr15:52474598-52474608 chr15:52474600-52474607 chr15:52474598-52474609
4	CTCF	chr15:52474520-52474670	HepG2	liver:	n/a	chr15:52474622-52474640 chr15:52474624-52474637
5	MAX	chr15:52474407-52474780	K562	blood:	n/a	chr15:52474598-52474608 chr15:52474597-52474607 chr15:52474598-52474609 chr15:52474599-52474608 chr15:52474594-52474613 chr15:52474599-52474608 chr15:52474598-52474609 chr15:52474598-52474608 chr15:52474600-52474607 chr15:52474598-52474609
6	USF2	chr15:52474562-52474713	GM12878	blood:	n/a	n/a
7	E2F6	chr15:52474480-52474698	K562	blood:	n/a	n/a
8	BHLHE40	chr15:52474498-52474738	HepG2	liver:	n/a	n/a
9	CTCF	chr15:52474599-52474714	GM12878	blood:	n/a	chr15:52474622-52474640 chr15:52474624-52474637
10	CTCF	chr15:52474520-52474670	GM12873	blood:	n/a	chr15:52474622-52474640 chr15:52474624-52474637
11	MAX	chr15:52474540-52474720	HepG2	liver:	n/a	chr15:52474598-52474608 chr15:52474597-52474607 chr15:52474598-52474609 chr15:52474599-52474608 chr15:52474594-52474613 chr15:52474599-52474608 chr15:52474598-52474609 chr15:52474598-52474608 chr15:52474600-52474607 chr15:52474598-52474609
12	CTCF	chr15:52474560-52474710	HCPEpiC	choroid plexus:	n/a	chr15:52474622-52474640 chr15:52474624-52474637
13	USF2	chr15:52474451-52474745	HepG2	liver:	n/a	n/a
14	USF1	chr15:52474445-52474717	K562	blood:	n/a	n/a
15	USF1	chr15:52474443-52474704	HepG2	liver:	n/a	n/a
16	HNF4A	chr15:52474443-52474681	HepG2	liver:	n/a	chr15:52474566-52474581 chr15:52474565-52474580
17	MAX	chr15:52474399-52474814	HepG2	liver:	n/a	chr15:52474598-52474608 chr15:52474597-52474607 chr15:52474598-52474609 chr15:52474599-52474608 chr15:52474594-52474613 chr15:52474599-52474608 chr15:52474598-52474609 chr15:52474598-52474608 chr15:52474600-52474607 chr15:52474598-52474609

No.	Distal block	Cell Line	Cell type
1	chr15:52469294..52473868-chr15:52474037..52480936,12	MCF-7	breast:
2	chr15:52380573..52382701-chr15:52474081..52475859,2	MCF-7	breast:
3	chr15:52473218..52475845-chr15:52500048..52503534,3	MCF-7	breast:
4	chr15:52467141..52469139-chr15:52474173..52476944,2	MCF-7	breast:
5	chr15:52463285..52465150-chr15:52473016..52475731,2	MCF-7	breast:
6	chr15:52472583..52475505-chr15:52484496..52486835,2	MCF-7	breast:
7	chr15:52474369..52476423-chr15:52586103..52588112,2	MCF-7	breast:
8	chr15:52310677..52312954-chr15:52473990..52475877,2	MCF-7	breast:
9	chr15:52473146..52475949-chr15:52491813..52494076,2	MCF-7	breast:

Variant related genes	Relation type
GNB5	TF binding region
ENSG00000259577	Chromatin interaction
ENSG00000259438	Chromatin interaction
ENSG00000128833	Chromatin interaction
ENSG00000069966	Chromatin interaction
ENSG00000069956	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10083575	1.00[AFR][1000 genomes]
rs55678152	0.89[AFR][1000 genomes]
rs56783306	0.82[AFR][1000 genomes]
rs59694167	0.82[AFR][1000 genomes]
rs7167590	1.00[ASN][1000 genomes]
rs74015617	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015623	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1054372	chr15:52369078-52579464	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv542387	chr15:52369078-52579464	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv833005	chr15:52389869-52541330	Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52472600-52476600	Weak transcription	Liver	Liver
2	chr15:52472800-52477200	Weak transcription	Ovary	ovary
3	chr15:52473000-52478400	Weak transcription	Aorta	Aorta
4	chr15:52473000-52479200	Weak transcription	Right Atrium	heart
5	chr15:52473000-52479400	Weak transcription	Esophagus	oesophagus
6	chr15:52473000-52483800	Weak transcription	A549	lung
7	chr15:52473000-52489000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:52473200-52475800	Enhancers	Primary B cells from peripheral blood	blood
9	chr15:52473200-52477200	Enhancers	HepG2	liver
10	chr15:52473200-52478600	Weak transcription	Lung	lung
11	chr15:52473200-52479400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr15:52473200-52483600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:52473200-52483600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr15:52473200-52483800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr15:52473200-52513600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:52473400-52475600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr15:52473400-52477200	Weak transcription	Pancreas	Pancrea
18	chr15:52473400-52478600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr15:52473400-52483400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:52473400-52483600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:52473400-52485600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:52473400-52496400	Weak transcription	Brain Anterior Caudate	brain
23	chr15:52473400-52496400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:52473400-52496600	Weak transcription	Spleen	Spleen
25	chr15:52473600-52512400	Weak transcription	Primary B cells from cord blood	blood
26	chr15:52473800-52476600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr15:52474200-52475400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:52474600-52474800	Enhancers	HSMMtube	muscle
29	chr15:52474600-52488400	Weak transcription	Fetal Muscle Leg	muscle

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