Variant report

Variant	rs17661264
Chromosome Location	chr12:62804079-62804080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62792054..62795051-chr12:62803056..62804839,2	K562	blood:
2	chr12:62802223..62804398-chr12:62996125..62998801,2	K562	blood:
3	chr12:62802154..62805925-chr12:62805959..62810469,4	K562	blood:
4	chr12:62800166..62802965-chr12:62803094..62805711,2	K562	blood:
5	chr12:62802231..62804396-chr12:62807395..62808972,2	K562	blood:

Variant related genes	Relation type
ENSG00000221949	Chromatin interaction
ENSG00000257354	Chromatin interaction
ENSG00000199179	Chromatin interaction
ENSG00000135655	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

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

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];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1074957	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610579	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[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];0.84[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];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11614866	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]
rs11614922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[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	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];0.95[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];0.83[AMR][1000 genomes];0.97[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];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17717265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17717700	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35496480	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635136	0.83[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	1.00[AFR][1000 genomes];0.86[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	1.00[AFR][1000 genomes];0.86[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	0.83[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[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];1.00[MKK][hapmap];0.88[TSI][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	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136830	0.83[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	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136848	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136851	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73136856	0.97[EUR][1000 genomes]
rs73136858	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136860	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136862	0.83[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	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136870	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	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137528	0.83[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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970028	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970042	0.83[AMR][1000 genomes];1.00[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	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
rs17661264	USP15	cis	Artery Aorta	GTEx

Chromatin state (count:41 , 50 per page) page: 1

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	chr12:62775600-62807800	Weak transcription	Aorta	Aorta
6	chr12:62791600-62807000	Weak transcription	Esophagus	oesophagus
7	chr12:62794200-62805800	Weak transcription	NHLF	lung
8	chr12:62796400-62805200	Weak transcription	NH-A	brain
9	chr12:62796600-62807400	Weak transcription	A549	lung
10	chr12:62797400-62809200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:62798200-62806400	Weak transcription	Left Ventricle	heart
12	chr12:62798200-62807400	Weak transcription	Thymus	Thymus
13	chr12:62798400-62809400	Weak transcription	HSMM	muscle
14	chr12:62799200-62807200	Weak transcription	HUVEC	blood vessel
15	chr12:62799200-62809200	Weak transcription	Fetal Brain Female	brain
16	chr12:62799400-62804800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:62799400-62806000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:62799400-62806200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:62799400-62808600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:62799400-62808600	Weak transcription	HMEC	breast
21	chr12:62799400-62809000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:62799600-62804400	Weak transcription	NHDF-Ad	bronchial
23	chr12:62799800-62806400	Weak transcription	Placenta	Placenta
24	chr12:62800800-62806400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:62801000-62806000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:62801200-62806600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:62801200-62808000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:62801600-62804800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:62801800-62808000	Weak transcription	GM12878-XiMat	blood
30	chr12:62802000-62807400	Weak transcription	Primary B cells from cord blood	blood
31	chr12:62802000-62809400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:62802200-62805200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:62802200-62806400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:62802200-62807000	Weak transcription	Fetal Thymus	thymus
35	chr12:62802200-62809200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:62802200-62809200	Weak transcription	Dnd41	blood
37	chr12:62802200-62810000	Weak transcription	Primary T cells from cord blood	blood
38	chr12:62802400-62806400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:62802400-62808800	Weak transcription	Liver	Liver
40	chr12:62802600-62806400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:62803400-62809400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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