Variant report

Variant	rs17717700
Chromosome Location	chr12:62797926-62797927
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62793306..62795703-chr12:62795951..62798733,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135655	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1074956	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1074957	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610579	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612349	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612366	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613953	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11614866	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614922	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615398	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615693	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586916	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659468	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659736	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659938	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660079	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660575	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17661264	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716130	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716446	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716876	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716977	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17717132	0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17717265	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35496480	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635136	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55642112	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55718649	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55905969	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55938311	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56049136	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56059115	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104969	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56117810	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56126088	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56181846	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56277058	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56291672	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56298756	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56309606	0.95[EUR][1000 genomes]
rs56402690	1.00[EUR][1000 genomes]
rs7133047	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296326	1.00[CHB][hapmap]
rs73135231	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135240	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135251	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135253	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135257	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135269	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135271	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135272	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135275	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135280	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135290	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135294	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135297	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135299	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136829	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136830	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136831	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136834	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136848	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136851	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73136856	0.97[EUR][1000 genomes]
rs73136858	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136860	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136862	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136863	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136864	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136866	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136869	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136870	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137504	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137512	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	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137528	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73139022	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316131	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970028	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970042	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7970114	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970298	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv899153	chr12:62716330-62817736	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1803510	chr12:62729782-62802643	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv469417	chr12:62751242-62802643	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv559155	chr12:62751242-62802643	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv899154	chr12:62764909-62811328	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv899155	chr12:62764909-62817736	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv899156	chr12:62783967-62831343	Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv899157	chr12:62783967-62843620	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17717700	USP15	cis	Artery Aorta	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62763000-62805400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:62767400-62807600	Weak transcription	HSMMtube	muscle
3	chr12:62769200-62805000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:62769400-62809600	Weak transcription	Stomach Mucosa	stomach
5	chr12:62772600-62800800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:62773200-62799400	Weak transcription	Brain Substantia Nigra	brain
7	chr12:62773600-62802400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:62774200-62800000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr12:62774200-62802200	Strong transcription	Dnd41	blood
10	chr12:62774400-62799400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:62774400-62802200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:62774600-62802000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:62774800-62801600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:62774800-62802200	Strong transcription	Fetal Thymus	thymus
15	chr12:62774800-62803200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:62775200-62802000	Strong transcription	Primary B cells from cord blood	blood
17	chr12:62775200-62802600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:62775600-62807800	Weak transcription	Aorta	Aorta
19	chr12:62777000-62799400	Strong transcription	Liver	Liver
20	chr12:62777000-62801200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:62777200-62799600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:62778600-62800400	Weak transcription	Psoas Muscle	Psoas
23	chr12:62781200-62801600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:62782200-62799200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:62782200-62799400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr12:62782200-62801800	Strong transcription	GM12878-XiMat	blood
27	chr12:62782600-62802400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:62782800-62798400	Strong transcription	HSMM	muscle
29	chr12:62782800-62799200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:62782800-62801200	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:62782800-62802000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:62783200-62798800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:62783400-62803400	Weak transcription	NHEK	skin
34	chr12:62783600-62799400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:62783600-62799800	Strong transcription	Placenta	Placenta
36	chr12:62784200-62802400	Weak transcription	Pancreas	Pancrea
37	chr12:62784600-62799600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr12:62786400-62799400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:62786800-62799400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr12:62787800-62803600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:62788000-62801600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:62788200-62800600	Weak transcription	Brain Anterior Caudate	brain
43	chr12:62788200-62800800	Weak transcription	Fetal Kidney	kidney
44	chr12:62788400-62800200	Weak transcription	Colonic Mucosa	Colon
45	chr12:62789200-62799600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:62789600-62798000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:62789600-62801000	Strong transcription	Primary T cells from cord blood	blood
48	chr12:62789800-62800800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:62790600-62798200	Weak transcription	Brain Germinal Matrix	brain
50	chr12:62791000-62799600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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