Variant report

Variant	rs59023791
Chromosome Location	chr15:34516995-34516996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:459)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:34516865-34517587	GM12878	blood:	n/a	n/a
2	TBP	chr15:34515995-34517560	K562	blood:	n/a	n/a
3	ATF3	chr15:34516771-34517488	A549	lung:	n/a	n/a
4	GABPA	chr15:34516850-34517609	HL-60	blood:	n/a	n/a
5	TAF1	chr15:34516009-34517490	K562	blood:	n/a	n/a
6	MBD4	chr15:34516953-34517445	HepG2	liver:	n/a	n/a
7	RAD21	chr15:34516948-34517513	IMR90	lung:	n/a	n/a
8	ELF1	chr15:34516967-34517441	K562	blood:	n/a	n/a
9	POLR2A	chr15:34516757-34517591	HL-60	blood:	n/a	n/a
10	USF1	chr15:34516971-34517359	A549	lung:	n/a	n/a
11	TBP	chr15:34516910-34517599	GM12878	blood:	n/a	n/a
12	TAF1	chr15:34516940-34517337	GM12878	blood:	n/a	n/a
13	TAF1	chr15:34516655-34517634	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr15:34516850-34517543	K562	blood:	n/a	n/a
15	MAFK	chr15:34516409-34517529	K562	blood:	n/a	chr15:34516986-34517000 chr15:34516987-34516997 chr15:34516987-34516996 chr15:34516985-34517001
16	POLR2A	chr15:34516794-34517543	HL-60	blood:	n/a	n/a
17	SMC3	chr15:34516966-34517289	HepG2	liver:	n/a	n/a
18	HDAC2	chr15:34516965-34517359	K562	blood:	n/a	chr15:34517115-34517129
19	ELF1	chr15:34516876-34517540	A549	lung:	n/a	n/a
20	FOXA2	chr15:34516936-34517329	HepG2	liver:	n/a	n/a
21	ATF3	chr15:34516867-34517484	A549	lung:	n/a	n/a
22	POLR2A	chr15:34516285-34517846	HepG2	liver:	n/a	n/a
23	GTF3C2	chr15:34516519-34517245	Hela-S3	cervix:	n/a	n/a
24	NFIC	chr15:34516911-34517387	HepG2	liver:	n/a	n/a
25	MAX	chr15:34515979-34517763	A549	lung:	n/a	n/a
26	EBF1	chr15:34516952-34517352	GM12878	blood:	n/a	n/a
27	YY1	chr15:34516847-34517552	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr15:34516906-34517537	HUVEC	blood vessel:	n/a	n/a
29	EP300	chr15:34516962-34517447	K562	blood:	n/a	chr15:34517209-34517216
30	ZBTB33	chr15:34516929-34517314	HCT-116	colon:	n/a	n/a
31	POLR2A	chr15:34516943-34517453	GM12891	blood:	n/a	n/a
32	RAD21	chr15:34516893-34517367	SK-N-SH_RA	brain:	n/a	n/a
33	POLR2A	chr15:34516846-34517422	SK-N-MC	brain:	n/a	n/a
34	FOSL2	chr15:34516911-34517289	A549	lung:	n/a	chr15:34516985-34516996 chr15:34516988-34516998
35	TBP	chr15:34516866-34517490	H1-hESC	embryonic stem cell:	n/a	n/a
36	YY1	chr15:34516955-34517412	SK-N-SH_RA	brain:	n/a	n/a
37	IRF4	chr15:34516855-34517451	GM12878	blood:	n/a	n/a
38	GATA3	chr15:34516759-34517712	A549	lung:	n/a	n/a
39	POLR2A	chr15:34516845-34517617	HUVEC	blood vessel:	n/a	n/a
40	TEAD4	chr15:34516899-34517387	K562	blood:	n/a	n/a
41	CBX3	chr15:34516868-34517561	HCT-116	colon:	n/a	n/a
42	TEAD4	chr15:34516804-34517530	K562	blood:	n/a	n/a
43	POLR2A	chr15:34516847-34517620	Hela-S3	cervix:	n/a	n/a
44	MAX	chr15:34516916-34517550	SK-N-SH	brain:	n/a	n/a
45	BCLAF1	chr15:34516871-34517386	K562	blood:	n/a	chr15:34517208-34517217
46	EP300	chr15:34516779-34517586	A549	lung:	n/a	chr15:34517209-34517216
47	JUND	chr15:34516432-34517476	K562	blood:	n/a	chr15:34516985-34516996 chr15:34516988-34516998
48	ATF1	chr15:34516847-34517424	K562	blood:	n/a	n/a
49	CBX3	chr15:34516748-34517475	HCT-116	colon:	n/a	n/a
50	REST	chr15:34516953-34517409	HepG2	liver:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:34391770..34396248-chr15:34515474..34518631,5	K562	blood:
2	chr15:34392855..34396101-chr15:34515904..34518783,5	MCF-7	breast:
3	chr15:34516456..34519073-chr15:34530589..34533176,2	MCF-7	breast:
4	chr15:34515761..34518007-chr15:34659442..34662221,3	K562	blood:
5	chr15:34393239..34395470-chr15:34515986..34518807,4	MCF-7	breast:
6	chr15:34515223..34518649-chr15:34658701..34662221,4	K562	blood:
7	chr15:34516218..34520145-chr15:34531781..34533965,3	K562	blood:
8	chr15:34498121..34503791-chr15:34514506..34519551,14	K562	blood:
9	chr15:34515788..34518726-chr15:34518893..34520736,3	K562	blood:
10	chr15:34516727..34517701-chr3:53915643..53916154,2	Hela-S3	cervix:
11	chr15:34516899..34519877-chr15:34627913..34631706,5	K562	blood:
12	chr15:34516899..34519877-chr15:34629611..34631706,2	K562	blood:
13	chr15:34497680..34504001-chr15:34514973..34521212,14	K562	blood:
14	chr15:34513565..34517614-chr15:34877827..34881077,3	K562	blood:
15	chr15:34515594..34518445-chr15:34530011..34531536,2	K562	blood:
16	chr1:144533750..144534472-chr15:34516659..34517532,2	Hela-S3	cervix:
17	chr15:34392570..34395907-chr15:34514179..34517187,3	K562	blood:
18	chr15:34516970..34518662-chr15:34536000..34538660,2	K562	blood:
19	chr15:34507802..34510107-chr15:34514805..34516996,3	K562	blood:

No data

Variant related genes	Relation type
EMC4	TF binding region
ENSG00000176454	Chromatin interaction
ENSG00000128463	Chromatin interaction
ENSG00000134152	Chromatin interaction
ENSG00000134153	Chromatin interaction
ENSG00000215252	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000182405	Chromatin interaction
ENSG00000140199	Chromatin interaction
ENSG00000113812	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1133154	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12050753	0.95[ASN][1000 genomes]
rs16958878	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17236763	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17236777	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17236784	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17236798	0.95[ASN][1000 genomes]
rs17236819	0.95[ASN][1000 genomes]
rs17817800	0.88[ASN][1000 genomes]
rs17817806	0.95[ASN][1000 genomes]
rs2244040	0.93[ASN][1000 genomes]
rs2290940	0.94[ASN][1000 genomes]
rs2290941	0.94[ASN][1000 genomes]
rs2290942	0.95[ASN][1000 genomes]
rs4238572	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4530104	0.85[ASN][1000 genomes]
rs4780231	0.83[ASN][1000 genomes]
rs4780232	0.83[ASN][1000 genomes]
rs4780233	0.89[ASN][1000 genomes]
rs4780234	0.88[ASN][1000 genomes]
rs56761496	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57494441	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs57626952	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59091709	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59209438	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59712831	0.96[ASN][1000 genomes]
rs60165224	0.95[ASN][1000 genomes]
rs60604568	0.95[ASN][1000 genomes]
rs61549125	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6495639	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6495646	0.94[ASN][1000 genomes]
rs73386033	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73386037	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73386038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73388003	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73388020	0.88[ASN][1000 genomes]
rs73388027	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73388046	0.88[ASN][1000 genomes]
rs73388049	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8035954	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1045173	chr15:34501055-34596995	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs59023791	NOP10	cis	Heart Left Ventricle	GTEx
rs59023791	NOP10	cis	Skin Sun Exposed Lower leg	GTEx
rs59023791	SLC12A6	cis	Thyroid	GTEx
rs59023791	NOP10	cis	Thyroid	GTEx
rs59023791	NOP10	cis	Artery Tibial	GTEx
rs59023791	NOP10	cis	Esophagus Mucosa	GTEx
rs59023791	NOP10	cis	Esophagus Muscularis	GTEx
rs59023791	NOP10	cis	Muscle Skeletal	GTEx
rs59023791	NOP10	cis	Nerve Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34516000-34517000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:34516000-34517600	Active TSS	Brain Hippocampus Middle	brain
3	chr15:34516000-34517600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr15:34516000-34517600	Active TSS	Placenta	Placenta
5	chr15:34516000-34517600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr15:34516000-34517600	Active TSS	Stomach Smooth Muscle	stomach
7	chr15:34516000-34517800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr15:34516000-34517800	Active TSS	Colon Smooth Muscle	Colon
9	chr15:34516000-34517800	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr15:34516000-34517800	Active TSS	Fetal Brain Female	brain
11	chr15:34516000-34518200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr15:34516000-34518200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:34516000-34518400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr15:34516000-34518400	Active TSS	Fetal Intestine Small	intestine
15	chr15:34516000-34518400	Active TSS	A549	lung
16	chr15:34516000-34518400	Active TSS	K562	blood
17	chr15:34516200-34517000	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr15:34516200-34517000	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr15:34516200-34517000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr15:34516200-34517000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:34516200-34517200	Active TSS	Fetal Lung	lung
22	chr15:34516200-34517600	Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr15:34516200-34517600	Active TSS	Brain Anterior Caudate	brain
24	chr15:34516200-34517600	Active TSS	Brain Substantia Nigra	brain
25	chr15:34516200-34517800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:34516200-34517800	Active TSS	Brain Cingulate Gyrus	brain
27	chr15:34516200-34517800	Active TSS	Fetal Heart	heart
28	chr15:34516200-34517800	Active TSS	Fetal Intestine Large	intestine
29	chr15:34516200-34517800	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr15:34516200-34517800	Active TSS	Small Intestine	intestine
31	chr15:34516200-34517800	Active TSS	HMEC	breast
32	chr15:34516200-34517800	Active TSS	NH-A	brain
33	chr15:34516200-34517800	Active TSS	Osteobl	bone
34	chr15:34516200-34518000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr15:34516200-34518000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr15:34516200-34518000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:34516200-34518000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:34516200-34518000	Active TSS	Esophagus	oesophagus
39	chr15:34516200-34518000	Active TSS	Fetal Kidney	kidney
40	chr15:34516200-34518000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr15:34516200-34518000	Active TSS	HSMMtube	muscle
42	chr15:34516200-34518200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr15:34516200-34518200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:34516200-34518200	Active TSS	Psoas Muscle	Psoas
45	chr15:34516200-34518200	Active TSS	Right Atrium	heart
46	chr15:34516200-34518200	Active TSS	NHLF	lung
47	chr15:34516200-34518400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:34516200-34518400	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr15:34516200-34518400	Active TSS	HSMM	muscle
50	chr15:34516200-34518600	Active TSS	HUES64 Cell Line	embryonic stem cell

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