Variant report

Variant	rs17716130
Chromosome Location	chr12:62674735-62674736
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62653360..62655932-chr12:62673636..62676374,2	MCF-7	breast:
2	chr12:62653228..62655636-chr12:62673957..62675546,2	K562	blood:

Variant related genes	Relation type
ENSG00000135655	Chromatin interaction
ENSG00000198673	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1074956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1074957	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610579	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11614866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615693	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586916	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17661264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17717132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17717265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17717700	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35496480	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635136	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55642112	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55718649	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55905969	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55938311	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56049136	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56059115	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104969	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56117810	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56126088	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56181846	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56277058	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56291672	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56298756	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56309606	0.95[EUR][1000 genomes]
rs56402690	0.89[EUR][1000 genomes]
rs7133047	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296326	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73135231	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135240	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135251	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135253	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135257	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135269	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135271	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135272	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135273	0.81[EUR][1000 genomes]
rs73135275	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135280	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135290	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135294	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135297	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135299	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136829	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136830	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136831	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136834	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136848	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136851	0.92[EUR][1000 genomes]
rs73136856	0.92[EUR][1000 genomes]
rs73136858	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136860	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136862	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136863	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136864	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136866	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136869	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136870	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137504	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137512	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137519	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137521	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137525	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137528	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73139022	1.00[ASN][1000 genomes]
rs7316131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970028	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970042	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7970114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970298	0.89[EUR][1000 genomes];1.00[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17716130	USP15	cis	Artery Aorta	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62655400-62685600	Weak transcription	HSMM	muscle
2	chr12:62656400-62679400	Weak transcription	Brain Anterior Caudate	brain
3	chr12:62656600-62685600	Weak transcription	Aorta	Aorta
4	chr12:62656600-62685600	Weak transcription	Pancreas	Pancrea
5	chr12:62656800-62675400	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:62661600-62676000	Weak transcription	Fetal Thymus	thymus
7	chr12:62661600-62682800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:62662200-62676000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:62663000-62685600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:62663200-62684800	Weak transcription	NHEK	skin
11	chr12:62663400-62685600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:62664400-62685400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:62664800-62676200	Weak transcription	Hela-S3	cervix
14	chr12:62665000-62688000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:62665600-62675600	Weak transcription	Primary B cells from cord blood	blood
16	chr12:62665800-62679000	Weak transcription	Fetal Lung	lung
17	chr12:62666800-62678200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:62666800-62681600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr12:62667200-62677000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:62667200-62682200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:62667800-62676400	Weak transcription	A549	lung
22	chr12:62667800-62689000	Weak transcription	HSMMtube	muscle
23	chr12:62668400-62675200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr12:62668400-62675200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:62668400-62675200	Weak transcription	Left Ventricle	heart
26	chr12:62668400-62679200	Weak transcription	Fetal Brain Male	brain
27	chr12:62668400-62682000	Weak transcription	NHLF	lung
28	chr12:62668800-62678000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr12:62669200-62677200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr12:62669600-62675600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:62669600-62680400	Weak transcription	Right Ventricle	heart
32	chr12:62669800-62675800	Weak transcription	Ovary	ovary
33	chr12:62669800-62675800	Weak transcription	Right Atrium	heart
34	chr12:62669800-62676200	Weak transcription	Adipose Nuclei	Adipose
35	chr12:62669800-62679200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:62669800-62688400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:62670000-62679200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:62670000-62688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:62670800-62679200	Weak transcription	NHDF-Ad	bronchial
40	chr12:62671000-62675200	Genic enhancers	K562	blood
41	chr12:62671000-62675600	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:62671200-62676200	Weak transcription	Fetal Heart	heart
43	chr12:62671400-62675000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:62671400-62675800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:62671400-62680000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr12:62672000-62675600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:62672200-62674800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr12:62672800-62677400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr12:62672800-62678600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:62673200-62675600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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