Variant report

Variant	rs56247511
Chromosome Location	chr15:58574749-58574750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:58574582-58574862	HepG2	liver:	n/a	n/a
2	RAD21	chr15:58574591-58574851	HepG2	liver:	n/a	n/a
3	MYC	chr15:58574604-58574800	K562	blood:	n/a	n/a
4	HNF4A	chr15:58574538-58574921	HepG2	liver:	n/a	n/a
5	EP300	chr15:58574474-58574945	HepG2	liver:	n/a	n/a
6	MAZ	chr15:58574592-58574777	K562	blood:	n/a	n/a
7	SMC3	chr15:58574570-58574831	HepG2	liver:	n/a	n/a
8	EP300	chr15:58574471-58574937	HepG2	liver:	n/a	n/a
9	CTCF	chr15:58574601-58574781	K562	blood:	n/a	n/a
10	NR2F2	chr15:58574274-58574911	K562	blood:	n/a	n/a
11	HDAC2	chr15:58574416-58574926	HepG2	liver:	n/a	n/a
12	ZNF143	chr15:58574582-58574777	K562	blood:	n/a	n/a
13	NR2F2	chr15:58574388-58574966	HepG2	liver:	n/a	n/a
14	JUND	chr15:58574572-58574793	K562	blood:	n/a	n/a
15	EP300	chr15:58574682-58574876	HepG2	liver:	n/a	n/a
16	BHLHE40	chr15:58574680-58574787	K562	blood:	n/a	n/a
17	CEBPB	chr15:58574714-58574861	HepG2	liver:	n/a	n/a
18	HNF4A	chr15:58574472-58574913	HepG2	liver:	n/a	n/a
19	SP1	chr15:58574453-58574921	HepG2	liver:	n/a	n/a
20	MYC	chr15:58574637-58574870	NB4	blood:	n/a	chr15:58574796-58574806
21	HDAC2	chr15:58574385-58574909	K562	blood:	n/a	n/a
22	SMC3	chr15:58574705-58574764	K562	blood:	n/a	n/a
23	CTCF	chr15:58574689-58574762	HepG2	liver:	n/a	n/a
24	FOXA1	chr15:58574569-58574937	HepG2	liver:	n/a	n/a
25	RAD21	chr15:58574531-58574910	HepG2	liver:	n/a	n/a
26	MXI1	chr15:58574482-58574872	HepG2	liver:	n/a	n/a
27	RCOR1	chr15:58574295-58574810	K562	blood:	n/a	n/a
28	MAX	chr15:58574460-58574957	HepG2	liver:	n/a	chr15:58574796-58574806
29	NR2F2	chr15:58574502-58574878	K562	blood:	n/a	n/a
30	HNF4G	chr15:58574466-58574920	HepG2	liver:	n/a	n/a
31	MAX	chr15:58574582-58574926	NB4	blood:	n/a	chr15:58574796-58574806
32	FOXA2	chr15:58574632-58574921	HepG2	liver:	n/a	n/a
33	RCOR1	chr15:58574708-58574782	K562	blood:	n/a	n/a
34	CTCF	chr15:58574689-58574787	K562	blood:	n/a	n/a
35	HNF4G	chr15:58574559-58574928	HepG2	liver:	n/a	n/a
36	USF1	chr15:58574653-58574875	HepG2	liver:	n/a	n/a
37	RUNX3	chr15:58574608-58574854	GM12878	blood:	n/a	n/a
38	TEAD4	chr15:58574249-58574913	HepG2	liver:	n/a	n/a
39	CEBPB	chr15:58574721-58574803	K562	blood:	n/a	n/a
40	FOXA1	chr15:58574615-58574893	HepG2	liver:	n/a	n/a
41	NR2F2	chr15:58574273-58574963	HepG2	liver:	n/a	n/a
42	CEBPB	chr15:58574631-58574934	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58570070..58572100-chr15:58573346..58576052,2	K562	blood:
2	chr15:58572569..58575158-chr15:58577696..58579609,2	MCF-7	breast:

No data

Variant related genes	Relation type
ALDH1A2	TF binding region
ENSG00000128918	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10518968	0.85[ASN][1000 genomes]
rs1430308	0.95[EUR][1000 genomes]
rs17240713	0.91[EUR][1000 genomes]
rs17821177	0.95[EUR][1000 genomes]
rs17821184	0.93[EUR][1000 genomes]
rs17821202	0.89[EUR][1000 genomes]
rs1850272	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28454770	0.83[ASN][1000 genomes]
rs55901481	0.93[EUR][1000 genomes]
rs56140064	0.95[EUR][1000 genomes]
rs56152791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56302476	0.89[EUR][1000 genomes]
rs73416459	0.80[EUR][1000 genomes]
rs73418322	0.81[EUR][1000 genomes]
rs73418343	0.82[EUR][1000 genomes]
rs73418374	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8024062	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833024	chr15:58447459-58621963	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv904264	chr15:58505122-58588510	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv904265	chr15:58517528-58588510	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv569599	chr15:58563209-58579956	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58564400-58582000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:58570800-58582200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr15:58572800-58574800	Enhancers	K562	blood
4	chr15:58574200-58574800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:58574200-58574800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:58574200-58574800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:58574200-58574800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr15:58574200-58574800	Enhancers	Right Atrium	heart
9	chr15:58574200-58575000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr15:58574200-58575400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:58574200-58575400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:58574200-58577400	Enhancers	HepG2	liver
13	chr15:58574400-58574800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:58574400-58574800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr15:58574400-58574800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr15:58574400-58574800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr15:58574400-58574800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:58574400-58574800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:58574400-58574800	Enhancers	Fetal Intestine Large	intestine
20	chr15:58574400-58574800	Enhancers	A549	lung
21	chr15:58574400-58574800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr15:58574400-58580200	Enhancers	Fetal Thymus	thymus
23	chr15:58574600-58574800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:58574600-58575000	Enhancers	Liver	Liver

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