Variant report

Variant	rs73135280
Chromosome Location	chr12:62689467-62689468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62688856..62691778-chr12:62700983..62703361,2	MCF-7	breast:
2	chr12:62689073..62691072-chr12:62705892..62707809,2	MCF-7	breast:
3	chr12:62686999..62689791-chr12:62697810..62699486,2	MCF-7	breast:
4	chr12:62650924..62654188-chr12:62688256..62690932,4	K562	blood:
5	chr12:62652239..62655569-chr12:62686648..62690779,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198673	Chromatin interaction
ENSG00000135655	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1074956	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1074957	0.87[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	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613953	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11614866	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614922	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615398	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615656	0.83[AFR][1000 genomes]
rs11615693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586916	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659468	0.97[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	0.83[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];0.97[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	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17716977	0.83[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	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635136	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55642112	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55718649	0.86[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	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56049136	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56059115	0.86[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	0.87[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	0.83[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	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139338	0.83[AFR][1000 genomes]
rs7296326	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7308137	0.83[AFR][1000 genomes]
rs73135231	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135240	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135251	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135253	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135257	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135269	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135271	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135272	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135273	0.84[EUR][1000 genomes]
rs73135275	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135290	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135294	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136829	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136830	0.83[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	0.83[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	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73136856	0.95[EUR][1000 genomes]
rs73136858	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136860	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136862	0.83[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	0.83[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	1.00[AFR][1000 genomes];0.93[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	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137528	0.83[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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970028	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970042	0.83[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	0.86[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
rs73135280	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	chr12:62679400-62696800	Weak transcription	Fetal Brain Male	brain
2	chr12:62683600-62697600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:62684000-62716200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:62685000-62691000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:62685400-62691200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:62685800-62690400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:62686200-62720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:62686400-62690600	Weak transcription	Esophagus	oesophagus
9	chr12:62686400-62698200	Weak transcription	Small Intestine	intestine
10	chr12:62686400-62736400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:62686600-62689600	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:62686600-62696600	Weak transcription	NH-A	brain
13	chr12:62686800-62697000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:62686800-62698200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:62686800-62704600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:62687000-62689800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:62687000-62689800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:62687000-62689800	Weak transcription	Fetal Stomach	stomach
19	chr12:62687000-62689800	Weak transcription	Pancreas	Pancrea
20	chr12:62687000-62690800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:62687000-62690800	Weak transcription	Aorta	Aorta
22	chr12:62687000-62693000	Weak transcription	Fetal Heart	heart
23	chr12:62687000-62695800	Strong transcription	Dnd41	blood
24	chr12:62687000-62696600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:62687000-62696800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:62687000-62697200	Weak transcription	NHLF	lung
27	chr12:62687000-62698200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:62687000-62699600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:62687000-62701400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:62687000-62702000	Weak transcription	Gastric	stomach
31	chr12:62687200-62689800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:62687200-62718200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:62687400-62689800	Weak transcription	Fetal Intestine Small	intestine
34	chr12:62687400-62691200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
35	chr12:62687400-62720600	Weak transcription	Right Ventricle	heart
36	chr12:62687600-62693400	Strong transcription	Fetal Lung	lung
37	chr12:62687800-62689800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:62687800-62689800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr12:62687800-62690600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr12:62687800-62691000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:62687800-62693200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:62687800-62693400	Strong transcription	Fetal Thymus	thymus
43	chr12:62688000-62689600	Strong transcription	Placenta	Placenta
44	chr12:62688000-62689800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr12:62688000-62690400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:62688000-62690600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr12:62688000-62690600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:62688000-62690600	Strong transcription	HUVEC	blood vessel
49	chr12:62688000-62690800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:62688000-62690800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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