Variant report

Variant	rs73135294
Chromosome Location	chr12:62698735-62698736
allele	A/C
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	CBX3	chr12:62698215-62698749	K562	blood:	n/a	n/a
2	KAP1	chr12:62698224-62699649	K562	blood:	n/a	n/a
3	SETDB1	chr12:62698274-62698753	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
USP15	TF binding region

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1074956	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1074957	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610579	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612349	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612366	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613953	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11614866	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614922	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615398	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615693	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586916	1.00[ASN][1000 genomes]
rs17659468	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659736	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659938	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660079	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660575	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17661264	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716130	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716446	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716876	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716977	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17717132	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17717265	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17717700	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35496480	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635136	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55642112	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55718649	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55905969	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55938311	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56049136	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56059115	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104969	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56117810	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56126088	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56181846	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56277058	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56291672	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56298756	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56309606	0.97[EUR][1000 genomes]
rs56402690	0.92[EUR][1000 genomes]
rs7133047	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296326	0.90[AMR][1000 genomes]
rs73135231	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135240	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135251	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135253	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135257	1.00[ASN][1000 genomes]
rs73135269	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135271	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135272	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135275	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135280	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135290	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135297	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135299	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136829	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136830	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136831	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136834	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136848	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136851	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73136856	0.95[EUR][1000 genomes]
rs73136858	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136860	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136862	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136863	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136864	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136866	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136869	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136870	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137504	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137512	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137519	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137521	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137525	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137528	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73139022	1.00[ASN][1000 genomes]
rs7316131	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970028	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970042	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7970114	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970298	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73135294	USP15	cis	Artery Aorta	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62684000-62716200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:62686200-62720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:62686400-62736400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:62686800-62704600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:62687000-62699600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:62687000-62701400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:62687000-62702000	Weak transcription	Gastric	stomach
8	chr12:62687200-62718200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:62687400-62720600	Weak transcription	Right Ventricle	heart
10	chr12:62689400-62716000	Weak transcription	Colonic Mucosa	Colon
11	chr12:62689600-62717400	Weak transcription	Brain Angular Gyrus	brain
12	chr12:62690200-62702000	Weak transcription	Left Ventricle	heart
13	chr12:62691200-62699400	Weak transcription	Pancreas	Pancrea
14	chr12:62691200-62699600	Weak transcription	Aorta	Aorta
15	chr12:62691200-62716400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:62691200-62736400	Weak transcription	Esophagus	oesophagus
17	chr12:62691200-62736600	Weak transcription	Lung	lung
18	chr12:62691600-62699600	Weak transcription	Spleen	Spleen
19	chr12:62691800-62706000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:62692000-62699600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:62692800-62699400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:62693200-62699600	Weak transcription	Fetal Stomach	stomach
23	chr12:62693200-62711800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:62693400-62699400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:62695200-62700800	ZNF genes & repeats	GM12878-XiMat	blood
26	chr12:62695600-62702600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:62695800-62699200	ZNF genes & repeats	Dnd41	blood
28	chr12:62695800-62701600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:62695800-62702200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr12:62696000-62702400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr12:62696200-62701600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:62696200-62703200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:62696200-62706400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr12:62696400-62701600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:62696400-62702000	Strong transcription	Placenta	Placenta
36	chr12:62696400-62702200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:62696400-62702200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:62696400-62702400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:62696400-62702400	Strong transcription	Liver	Liver
40	chr12:62696400-62702400	Strong transcription	Fetal Thymus	thymus
41	chr12:62696600-62699800	Weak transcription	Stomach Mucosa	stomach
42	chr12:62696600-62700200	Strong transcription	NH-A	brain
43	chr12:62696600-62700200	Strong transcription	Osteobl	bone
44	chr12:62696600-62700600	Strong transcription	HMEC	breast
45	chr12:62696600-62701200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:62696600-62702400	Strong transcription	HSMM	muscle
47	chr12:62696800-62699000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr12:62696800-62699800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:62696800-62700000	Strong transcription	HUVEC	blood vessel
50	chr12:62696800-62701200	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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