Variant report

Variant	rs73386037
Chromosome Location	chr15:34516002-34516003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

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	MAX	chr15:34515979-34517763	A549	lung:	n/a	n/a
3	CTCF	chr15:34516000-34516150	HepG2	liver:	n/a	n/a
4	JUN	chr15:34515857-34517857	K562	blood:	n/a	chr15:34516985-34516996 chr15:34516988-34516998
5	UBTF	chr15:34515960-34516544	K562	blood:	n/a	n/a
6	IRF1	chr15:34515977-34517408	K562	blood:	n/a	n/a
7	MXI1	chr15:34515886-34518224	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr15:34516000-34516150	NB4	blood:	n/a	n/a
9	CTCF	chr15:34515940-34516090	HAc	cerebellar:	n/a	n/a
10	CTCF	chr15:34515980-34516130	GM12864	blood:	n/a	n/a
11	CTCF	chr15:34515940-34516090	HVMF	connective:	n/a	n/a

No data

(count:14 , 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	chr15:34515761..34518007-chr15:34659442..34662221,3	K562	blood:
4	chr15:34393239..34395470-chr15:34515986..34518807,4	MCF-7	breast:
5	chr15:34515223..34518649-chr15:34658701..34662221,4	K562	blood:
6	chr15:34498121..34503791-chr15:34514506..34519551,14	K562	blood:
7	chr15:34515788..34518726-chr15:34518893..34520736,3	K562	blood:
8	chr15:34514547..34516145-chr15:34521296..34523064,2	K562	blood:
9	chr15:34497680..34504001-chr15:34514973..34521212,14	K562	blood:
10	chr15:34513565..34517614-chr15:34877827..34881077,3	K562	blood:
11	chr15:34515594..34518445-chr15:34530011..34531536,2	K562	blood:
12	chr15:34392570..34395907-chr15:34514179..34517187,3	K562	blood:
13	chr15:34507877..34510107-chr15:34514805..34516525,2	K562	blood:
14	chr15:34507802..34510107-chr15:34514805..34516996,3	K562	blood:

No data

Variant related genes	Relation type
EMC4	TF binding region
ENSG00000134152	Chromatin interaction
ENSG00000128463	Chromatin interaction
ENSG00000176454	Chromatin interaction
ENSG00000182405	Chromatin interaction
ENSG00000215252	Chromatin interaction
ENSG00000140199	Chromatin interaction
ENSG00000134153	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	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12050753	0.95[ASN][1000 genomes]
rs16958878	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17236763	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17236777	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17236784	0.81[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	0.86[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	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57494441	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs57626952	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59023791	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59091709	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59209438	0.84[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	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6495639	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6495646	0.94[ASN][1000 genomes]
rs73386033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73386038	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73388003	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73388020	0.88[ASN][1000 genomes]
rs73388027	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73388046	0.88[ASN][1000 genomes]
rs73388049	0.84[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
rs73386037	NOP10	cis	Esophagus Mucosa	GTEx
rs73386037	SLC12A6	cis	Thyroid	GTEx
rs73386037	NOP10	cis	Artery Tibial	GTEx
rs73386037	NOP10	cis	Skin Sun Exposed Lower leg	GTEx
rs73386037	NOP10	cis	Muscle Skeletal	GTEx
rs73386037	NOP10	cis	Heart Left Ventricle	GTEx
rs73386037	NOP10	cis	Thyroid	GTEx
rs73386037	NOP10	cis	Esophagus Muscularis	GTEx
rs73386037	NOP10	cis	Nerve Tibial	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34507200-34516200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr15:34510200-34516200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr15:34510400-34516200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr15:34510400-34516200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:34510400-34516200	Weak transcription	NHDF-Ad	bronchial
6	chr15:34511800-34516200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:34514000-34516400	Weak transcription	HUVEC	blood vessel
8	chr15:34515400-34516200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:34516000-34516200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr15:34516000-34516200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:34516000-34516200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr15:34516000-34516200	Enhancers	Primary B cells from cord blood	blood
13	chr15:34516000-34516200	Enhancers	Primary B cells from peripheral blood	blood
14	chr15:34516000-34516200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr15:34516000-34516200	Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr15:34516000-34516200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:34516000-34516200	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr15:34516000-34516200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:34516000-34516200	Active TSS	Adipose Nuclei	Adipose
20	chr15:34516000-34516200	Enhancers	Liver	Liver
21	chr15:34516000-34516200	Active TSS	Duodenum Mucosa	Duodenum
22	chr15:34516000-34516200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr15:34516000-34516200	Enhancers	Fetal Intestine Large	intestine
24	chr15:34516000-34516200	Enhancers	Fetal Muscle Leg	muscle
25	chr15:34516000-34516200	Enhancers	Left Ventricle	heart
26	chr15:34516000-34516200	Enhancers	Lung	lung
27	chr15:34516000-34516200	Enhancers	Pancreas	Pancrea
28	chr15:34516000-34516200	Enhancers	Rectal Smooth Muscle	rectum
29	chr15:34516000-34516200	Active TSS	Right Ventricle	heart
30	chr15:34516000-34516200	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr15:34516000-34516200	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr15:34516000-34516200	Enhancers	Dnd41	blood
33	chr15:34516000-34516200	Enhancers	Hela-S3	cervix
34	chr15:34516000-34516200	Enhancers	NHEK	skin
35	chr15:34516000-34516400	Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr15:34516000-34516400	Active TSS	Primary T cells from cord blood	blood
37	chr15:34516000-34516400	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr15:34516000-34516400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:34516000-34516400	Active TSS	HepG2	liver
40	chr15:34516000-34516600	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr15:34516000-34516600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:34516000-34516600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:34516000-34516600	Flanking Active TSS	GM12878-XiMat	blood
44	chr15:34516000-34516800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:34516000-34516800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:34516000-34516800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr15:34516000-34517000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:34516000-34517600	Active TSS	Brain Hippocampus Middle	brain
49	chr15:34516000-34517600	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr15:34516000-34517600	Active TSS	Placenta	Placenta

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