Variant report

Variant	rs12762457
Chromosome Location	chr10:27497745-27497746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10430596	0.85[AMR][1000 genomes]
rs10741130	0.83[AMR][1000 genomes]
rs10764676	0.83[ASN][1000 genomes]
rs10764683	0.81[AMR][1000 genomes]
rs10764684	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10764690	0.81[ASN][1000 genomes]
rs10829188	0.83[ASN][1000 genomes]
rs10829197	0.81[AMR][1000 genomes]
rs10829200	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10829201	0.81[AMR][1000 genomes]
rs10829202	0.81[AMR][1000 genomes]
rs10829208	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10829212	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11015549	0.83[ASN][1000 genomes]
rs11015563	0.83[ASN][1000 genomes]
rs11015570	0.83[ASN][1000 genomes]
rs11015586	0.86[ASN][1000 genomes]
rs11015588	0.81[AMR][1000 genomes]
rs11015590	0.81[AMR][1000 genomes]
rs11015600	0.80[EUR][1000 genomes]
rs1144510	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1144511	0.89[EUR][1000 genomes]
rs1148167	0.89[EUR][1000 genomes]
rs11597298	0.81[AMR][1000 genomes]
rs12265358	0.81[AMR][1000 genomes]
rs1328602	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1338	0.83[AMR][1000 genomes]
rs1360007	0.83[ASN][1000 genomes]
rs1557168	0.83[AMR][1000 genomes]
rs1557169	0.82[AMR][1000 genomes]
rs1557170	0.83[AMR][1000 genomes]
rs1780091	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1981296	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2040038	0.89[EUR][1000 genomes]
rs2243922	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2770202	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2780667	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2780672	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2780674	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2780675	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2780681	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2800392	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2887190	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35805599	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs3758403	0.81[ASN][1000 genomes]
rs3780920	0.83[ASN][1000 genomes]
rs3780926	0.83[ASN][1000 genomes]
rs3824593	0.83[ASN][1000 genomes]
rs4142123	0.83[ASN][1000 genomes]
rs4747588	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4749240	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61849039	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6482596	0.83[ASN][1000 genomes]
rs6482600	0.86[ASN][1000 genomes]
rs6482601	0.86[ASN][1000 genomes]
rs7067696	0.83[ASN][1000 genomes]
rs7068375	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7069942	0.85[ASN][1000 genomes]
rs7070117	0.85[ASN][1000 genomes]
rs7079282	0.81[EUR][1000 genomes]
rs7079792	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7079885	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7086553	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7091128	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7091723	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7099019	0.85[AMR][1000 genomes]
rs7477806	0.81[ASN][1000 genomes]
rs7894187	0.83[ASN][1000 genomes]
rs7900024	0.83[ASN][1000 genomes]
rs7901653	0.83[ASN][1000 genomes]
rs7901976	0.83[ASN][1000 genomes]
rs7910367	0.85[ASN][1000 genomes]
rs7918395	0.85[ASN][1000 genomes]
rs7919523	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924231	0.83[AMR][1000 genomes]
rs882474	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs882475	0.81[AMR][1000 genomes]
rs9299837	0.81[AMR][1000 genomes];0.86[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	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS 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 target site	32 gene(s)	inside rSNPs	diseases
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv894980	chr10:27477285-27526531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv2762849	chr10:27496528-27498206	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs12762457	MASTL	cis	Skin Sun Exposed Lower leg	GTEx
rs12762457	MASTL	cis	Adipose Subcutaneous	GTEx
rs12762457	MASTL	cis	Whole Blood	GTEx
rs12762457	YME1L1	Cis_1M	lymphoblastoid	RTeQTL
rs12762457	MASTL	cis	Esophagus Muscularis	GTEx
rs12762457	MASTL	cis	lung	GTEx
rs12762457	MASTL	cis	Artery Tibial	GTEx
rs12762457	MASTL	cis	Thyroid	GTEx
rs12762457	MASTL	cis	Muscle Skeletal	GTEx
rs12762457	MASTL	cis	Nerve Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27446400-27499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:27446400-27508400	Weak transcription	Small Intestine	intestine
3	chr10:27473200-27524200	Weak transcription	Stomach Mucosa	stomach
4	chr10:27474200-27512000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr10:27475600-27528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:27476200-27528600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:27476400-27499000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:27481600-27527800	Weak transcription	Psoas Muscle	Psoas
9	chr10:27481800-27498000	Weak transcription	NHLF	lung
10	chr10:27481800-27499200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:27482600-27512600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr10:27483800-27512200	Strong transcription	Liver	Liver
13	chr10:27484000-27512400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr10:27484000-27512400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:27484000-27512400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr10:27484000-27512600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr10:27484200-27512400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr10:27484600-27512400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:27484800-27510800	Strong transcription	Left Ventricle	heart
20	chr10:27484800-27512400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr10:27484800-27513000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr10:27484800-27513200	Strong transcription	Fetal Intestine Large	intestine
23	chr10:27485000-27512400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr10:27485200-27512200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr10:27485200-27512400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:27485200-27512400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:27485200-27512600	Strong transcription	Duodenum Mucosa	Duodenum
28	chr10:27485800-27505800	Strong transcription	Fetal Muscle Leg	muscle
29	chr10:27486600-27499000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr10:27486600-27508800	Strong transcription	Fetal Intestine Small	intestine
31	chr10:27486600-27508800	Strong transcription	Fetal Stomach	stomach
32	chr10:27486600-27512200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr10:27487200-27512400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr10:27487800-27498400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:27488000-27508800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr10:27488400-27512400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr10:27488600-27528600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr10:27488800-27507800	Weak transcription	Fetal Heart	heart
39	chr10:27489400-27504600	Strong transcription	Dnd41	blood
40	chr10:27489600-27512400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr10:27489800-27512200	Strong transcription	Adipose Nuclei	Adipose
42	chr10:27489800-27512400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr10:27489800-27512400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:27490000-27512400	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr10:27490000-27512400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr10:27490000-27512600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr10:27490200-27506000	Strong transcription	Primary T cells from cord blood	blood
48	chr10:27490200-27512000	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr10:27490400-27497800	Strong transcription	HUVEC	blood vessel
50	chr10:27490400-27504600	Strong transcription	Fetal Thymus	thymus

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