Variant report

Variant	rs11614866
Chromosome Location	chr12:62667078-62667079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62662341..62664001-chr12:62666915..62669884,2	K562	blood:
2	chr12:62665991..62668635-chr12:62694921..62697078,2	MCF-7	breast:
3	chr12:62655605..62659464-chr12:62666404..62669367,3	MCF-7	breast:
4	chr12:62665950..62669745-chr12:62669787..62672492,3	MCF-7	breast:
5	chr12:62658927..62663716-chr12:62665926..62669269,6	K562	blood:
6	chr12:62665900..62668712-chr12:62685607..62687390,2	K562	blood:

Variant related genes	Relation type
ENSG00000135655	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1074956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1074957	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610579	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11614922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615656	0.83[AFR][1000 genomes]
rs11615693	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586916	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17661264	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716130	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];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17717132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17717265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17717700	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35496480	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635136	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55642112	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55718649	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55905969	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55938311	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56049136	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56059115	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104969	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56117810	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56126088	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56181846	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56277058	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56291672	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56298756	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56309606	0.84[EUR][1000 genomes]
rs56402690	0.84[EUR][1000 genomes]
rs7133047	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139338	0.83[AFR][1000 genomes]
rs7296326	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7308137	0.83[AFR][1000 genomes]
rs73135231	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135240	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135251	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135253	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135257	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135269	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135271	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135272	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135275	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135280	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135290	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135294	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135297	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135299	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136829	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136830	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136831	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136834	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136848	1.00[ASN][1000 genomes]
rs73136851	0.82[EUR][1000 genomes]
rs73136856	0.82[EUR][1000 genomes]
rs73136858	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136860	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136862	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136863	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136864	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136866	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136869	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136870	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137504	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137512	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137519	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137521	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137525	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137528	0.84[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];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970028	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970042	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7970114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970298	0.84[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
rs11614866	USP15	cis	Artery Aorta	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62655400-62685600	Weak transcription	HSMM	muscle
2	chr12:62656000-62668200	Weak transcription	Right Atrium	heart
3	chr12:62656400-62669600	Enhancers	Liver	Liver
4	chr12:62656400-62679400	Weak transcription	Brain Anterior Caudate	brain
5	chr12:62656600-62668400	Weak transcription	Fetal Brain Female	brain
6	chr12:62656600-62685600	Weak transcription	Aorta	Aorta
7	chr12:62656600-62685600	Weak transcription	Pancreas	Pancrea
8	chr12:62656800-62675400	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:62658400-62669400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:62658400-62671200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:62658400-62671400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:62659000-62671800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:62659200-62669800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:62659400-62671400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:62659600-62667800	Weak transcription	Left Ventricle	heart
16	chr12:62661400-62673600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:62661600-62667800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:62661600-62668600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr12:62661600-62676000	Weak transcription	Fetal Thymus	thymus
20	chr12:62661600-62682800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:62662200-62676000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:62662800-62669600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:62663000-62668200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:62663000-62685600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:62663200-62669400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:62663200-62670800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:62663200-62671600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:62663200-62684800	Weak transcription	NHEK	skin
29	chr12:62663400-62667400	Weak transcription	Osteobl	bone
30	chr12:62663400-62667800	Weak transcription	Small Intestine	intestine
31	chr12:62663400-62685600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:62663600-62667800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr12:62663600-62667800	Weak transcription	Psoas Muscle	Psoas
34	chr12:62663600-62668000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:62663600-62668200	Weak transcription	Ovary	ovary
36	chr12:62663800-62669000	Enhancers	Colon Smooth Muscle	Colon
37	chr12:62663800-62671200	Enhancers	Fetal Heart	heart
38	chr12:62663800-62671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:62664000-62669400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:62664200-62668200	Enhancers	Stomach Mucosa	stomach
41	chr12:62664400-62667200	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr12:62664400-62673000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:62664400-62685400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:62664800-62668600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr12:62664800-62671600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr12:62664800-62676200	Weak transcription	Hela-S3	cervix
47	chr12:62665000-62667600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:62665000-62667800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:62665000-62668600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:62665000-62669200	Weak transcription	GM12878-XiMat	blood

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