Variant report

Variant	rs73386038
Chromosome Location	chr15:34516680-34516681
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr15:34515995-34517560	K562	blood:	n/a	n/a
2	TAF1	chr15:34516009-34517490	K562	blood:	n/a	n/a
3	TAF1	chr15:34516655-34517634	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAFK	chr15:34516409-34517529	K562	blood:	n/a	chr15:34516986-34517000 chr15:34516987-34516997 chr15:34516987-34516996 chr15:34516985-34517001
5	POLR2A	chr15:34516285-34517846	HepG2	liver:	n/a	n/a
6	GTF3C2	chr15:34516519-34517245	Hela-S3	cervix:	n/a	n/a
7	MAX	chr15:34515979-34517763	A549	lung:	n/a	n/a
8	POLR2A	chr15:34516138-34516811	K562	blood:	n/a	n/a
9	JUND	chr15:34516432-34517476	K562	blood:	n/a	chr15:34516985-34516996 chr15:34516988-34516998
10	SIX5	chr15:34516301-34517626	A549	lung:	n/a	n/a
11	TAF1	chr15:34516135-34517667	A549	lung:	n/a	n/a
12	GTF3C2	chr15:34516152-34517324	K562	blood:	n/a	n/a
13	POLR2A	chr15:34516040-34517523	K562	blood:	n/a	n/a
14	WRNIP1	chr15:34516369-34516684	GM12878	blood:	n/a	n/a
15	POLR2A	chr15:34516234-34517598	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr15:34516435-34517622	PBDE	blood:	n/a	n/a
17	POLR2A	chr15:34516636-34517552	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr15:34516135-34517466	K562	blood:	n/a	n/a
19	TCF12	chr15:34516152-34518004	A549	lung:	n/a	n/a
20	ZNF384	chr15:34516141-34517438	K562	blood:	n/a	n/a
21	POLR2A	chr15:34516090-34517957	H1-hESC	embryonic stem cell:	n/a	n/a
22	SP1	chr15:34516590-34517475	A549	lung:	n/a	n/a
23	ZNF384	chr15:34516516-34517347	GM12878	blood:	n/a	n/a
24	REST	chr15:34516293-34517659	A549	lung:	n/a	n/a
25	JUN	chr15:34515857-34517857	K562	blood:	n/a	chr15:34516985-34516996 chr15:34516988-34516998
26	POLR2A	chr15:34516286-34516698	K562	blood:	n/a	n/a
27	POLR2A	chr15:34516107-34517490	K562	blood:	n/a	n/a
28	EGR1	chr15:34516564-34517320	K562	blood:	n/a	chr15:34517208-34517217 chr15:34517076-34517085
29	REST	chr15:34516638-34517902	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr15:34516657-34517657	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr15:34516146-34517487	K562	blood:	n/a	n/a
32	MAX	chr15:34516025-34516702	K562	blood:	n/a	n/a
33	POLR2A	chr15:34516443-34516729	ProgFib	skin:	n/a	n/a
34	EP300	chr15:34516510-34517387	K562	blood:	n/a	chr15:34517209-34517216
35	MYC	chr15:34516488-34517430	NB4	blood:	n/a	n/a
36	GABPA	chr15:34516234-34517952	A549	lung:	n/a	n/a
37	IRF1	chr15:34516562-34517396	K562	blood:	n/a	n/a
38	IRF1	chr15:34515977-34517408	K562	blood:	n/a	n/a
39	POLR2A	chr15:34516267-34517560	PFSK-1	brain:	n/a	n/a
40	MXI1	chr15:34515886-34518224	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr15:34516403-34517653	SK-N-MC	brain:	n/a	n/a
42	SP1	chr15:34516058-34517553	A549	lung:	n/a	n/a
43	POLR2A	chr15:34516344-34517830	GM12891	blood:	n/a	n/a
44	POLR2A	chr15:34516359-34517550	GM12878	blood:	n/a	n/a
45	MAZ	chr15:34516664-34517514	HepG2	liver:	n/a	n/a
46	POLR2A	chr15:34516650-34517990	MCF10A-Er-Src	breast:	n/a	n/a
47	TAF1	chr15:34516673-34517446	SK-N-SH	brain:	n/a	n/a
48	ZMIZ1	chr15:34516404-34516689	K562	blood:	n/a	n/a
49	KAP1	chr15:34516597-34517302	U2OS	brain:	n/a	n/a
50	TAF1	chr15:34516209-34517382	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:34516640-34516690	HAEpiC	amniotic membrane:	n/a
2	chr15:34516640-34516690	HIPEpiC	eye:	n/a
3	chr15:34516640-34516690	NB4	blood:	n/a
4	chr15:34516640-34516690	NHBE	bronchial:	n/a
5	chr15:34516640-34516690	CMK	blood:	n/a
6	chr15:34516640-34516690	PFSK-1	brain:	n/a
7	chr15:34516640-34516690	K562	blood:	n/a
8	chr15:34516640-34516690	Hepatocyte	liver:	n/a
9	chr15:34516640-34516690	Caco-2	colon:	n/a
10	chr15:34516640-34516690	MCF-7	breast:	n/a
11	chr15:34516640-34516690	SKMC	muscle:	n/a
12	chr15:34516640-34516690	GM06990	blood:	n/a
13	chr15:34516640-34516690	ProgFib	skin:	n/a
14	chr15:34516640-34516690	PrEC	prostate:	n/a
15	chr15:34516640-34516690	BE2_C	brain:	n/a
16	chr15:34516640-34516690	AG09309	skin:	n/a
17	chr15:34516640-34516690	HRCEpiC	kidney:	n/a
18	chr15:34516640-34516690	NH-A	brain:	n/a
19	chr15:34516640-34516690	HUVEC	blood vessel:	n/a
20	chr15:34516640-34516690	U87	brain:	n/a
21	chr15:34516640-34516690	SK-N-SH_RA	brain:	n/a
22	chr15:34516640-34516690	Jurkat	blood:	n/a
23	chr15:34516640-34516690	GM12878	blood:	n/a
24	chr15:34516640-34516690	HMEC	breast:	n/a
25	chr15:34516640-34516690	SAEC	small airway:	n/a
26	chr15:34516640-34516690	HNPCEpiC	eye:	n/a
27	chr15:34516640-34516690	HCM	heart:	n/a
28	chr15:34516640-34516690	LNCaP	prostate:	n/a
29	chr15:34516640-34516690	HCT-116	colon:	n/a
30	chr15:34516640-34516690	BJ	skin:	n/a
31	chr15:34516640-34516690	T-47D	breast:	n/a
32	chr15:34516640-34516690	HCPEpiC	choroid plexus:	n/a
33	chr15:34516640-34516690	ovcar-3	ovarian:	n/a
34	chr15:34516640-34516690	A549	lung:	n/a
35	chr15:34516640-34516690	HCF	heart:	n/a
36	chr15:34516640-34516690	GM12891	blood:	n/a
37	chr15:34516640-34516690	HL-60	blood:	n/a
38	chr15:34516640-34516690	HepG2	liver:	n/a
39	chr15:34516640-34516690	GM12892	blood:	n/a
40	chr15:34516640-34516690	NHDF-neo	bronchial:	n/a
41	chr15:34516640-34516690	AG09319	gingival:	n/a
42	chr15:34516640-34516690	AoSMC	blood vessel:	n/a
43	chr15:34516640-34516690	IMR90	lung:	fetal
44	chr15:34516640-34516690	HRPEpiC	eye:	n/a
45	chr15:34516640-34516690	H1-hESC	embryonic stem cell:	embryo
46	chr15:34516640-34516690	ECC-1	luminal epithelium:	n/a
47	chr15:34516640-34516690	AG04450	lung:	fetal
48	chr15:34516640-34516690	Hela-S3	cervix:	n/a
49	chr15:34516640-34516690	NT2-D1	testis:	n/a
50	chr15:34516640-34516690	PANC-1	pancreas:	n/a

(count:15 , 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	chr15:34497680..34504001-chr15:34514973..34521212,14	K562	blood:
11	chr15:34513565..34517614-chr15:34877827..34881077,3	K562	blood:
12	chr15:34515594..34518445-chr15:34530011..34531536,2	K562	blood:
13	chr1:144533750..144534472-chr15:34516659..34517532,2	Hela-S3	cervix:
14	chr15:34392570..34395907-chr15:34514179..34517187,3	K562	blood:
15	chr15:34507802..34510107-chr15:34514805..34516996,3	K562	blood:

No data

Variant related genes	Relation type
EMC4	TF binding region
EMC4	CpG island
ENSG00000201699	Chromatin interaction
ENSG00000215252	Chromatin interaction
ENSG00000140199	Chromatin interaction
ENSG00000182405	Chromatin interaction
ENSG00000128463	Chromatin interaction
ENSG00000134153	Chromatin interaction
ENSG00000134152	Chromatin interaction
ENSG00000176454	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]
rs59023791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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]
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
rs73386038	NOP10	cis	Nerve Tibial	GTEx
rs73386038	NOP10	cis	Esophagus Muscularis	GTEx
rs73386038	NOP10	cis	Heart Left Ventricle	GTEx
rs73386038	SLC12A6	cis	Thyroid	GTEx
rs73386038	NOP10	cis	Skin Sun Exposed Lower leg	GTEx
rs73386038	NOP10	cis	Artery Tibial	GTEx
rs73386038	NOP10	cis	Esophagus Mucosa	GTEx
rs73386038	NOP10	cis	Thyroid	GTEx
rs73386038	NOP10	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34516000-34516800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr15:34516000-34516800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr15:34516000-34516800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr15:34516000-34517000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:34516000-34517600	Active TSS	Brain Hippocampus Middle	brain
6	chr15:34516000-34517600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr15:34516000-34517600	Active TSS	Placenta	Placenta
8	chr15:34516000-34517600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr15:34516000-34517600	Active TSS	Stomach Smooth Muscle	stomach
10	chr15:34516000-34517800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr15:34516000-34517800	Active TSS	Colon Smooth Muscle	Colon
12	chr15:34516000-34517800	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr15:34516000-34517800	Active TSS	Fetal Brain Female	brain
14	chr15:34516000-34518200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr15:34516000-34518200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:34516000-34518400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr15:34516000-34518400	Active TSS	Fetal Intestine Small	intestine
18	chr15:34516000-34518400	Active TSS	A549	lung
19	chr15:34516000-34518400	Active TSS	K562	blood
20	chr15:34516200-34516800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr15:34516200-34516800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr15:34516200-34516800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr15:34516200-34516800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:34516200-34516800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:34516200-34516800	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr15:34516200-34516800	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr15:34516200-34516800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr15:34516200-34516800	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr15:34516200-34516800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr15:34516200-34516800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr15:34516200-34516800	Flanking Active TSS	Thymus	Thymus
32	chr15:34516200-34516800	Flanking Active TSS	Dnd41	blood
33	chr15:34516200-34516800	Flanking Active TSS	Hela-S3	cervix
34	chr15:34516200-34517000	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr15:34516200-34517000	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr15:34516200-34517000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr15:34516200-34517000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:34516200-34517200	Active TSS	Fetal Lung	lung
39	chr15:34516200-34517600	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr15:34516200-34517600	Active TSS	Brain Anterior Caudate	brain
41	chr15:34516200-34517600	Active TSS	Brain Substantia Nigra	brain
42	chr15:34516200-34517800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:34516200-34517800	Active TSS	Brain Cingulate Gyrus	brain
44	chr15:34516200-34517800	Active TSS	Fetal Heart	heart
45	chr15:34516200-34517800	Active TSS	Fetal Intestine Large	intestine
46	chr15:34516200-34517800	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr15:34516200-34517800	Active TSS	Small Intestine	intestine
48	chr15:34516200-34517800	Active TSS	HMEC	breast
49	chr15:34516200-34517800	Active TSS	NH-A	brain
50	chr15:34516200-34517800	Active TSS	Osteobl	bone

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