Variant report

Variant	rs11015575
Chromosome Location	chr10:27445574-27445575
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:27442481-27445646	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr10:27442288-27445640	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr10:27445484-27445860	GM12878	blood:	n/a	n/a
4	CHD1	chr10:27441735-27445646	IMR90	lung:	n/a	n/a
5	JUN	chr10:27442431-27445590	K562	blood:	n/a	chr10:27442679-27442688 chr10:27444114-27444127
6	RCOR1	chr10:27445476-27445663	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr10:27445573-27445611	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF384	chr10:27445462-27445900	K562	blood:	n/a	n/a
9	POLR2A	chr10:27441880-27445789	IMR90	lung:	n/a	n/a
10	POLR2A	chr10:27445449-27446015	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:27442535..27445982-chr10:27528407..27534290,13	K562	blood:
2	chr10:27425252..27427965-chr10:27444886..27446851,2	MCF-7	breast:
3	chr10:27442176..27446829-chr10:27524472..27534671,19	K562	blood:
4	chr10:27441114..27446089-chr10:27527560..27532728,23	MCF-7	breast:
5	chr10:27445313..27446905-chr10:27529992..27532345,2	MCF-7	breast:

Variant related genes	Relation type
YME1L1	TF binding region
ENSG00000262412	Chromatin interaction
ENSG00000136758	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000263577	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10741130	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10764668	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10764669	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10764676	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10764680	0.85[EUR][1000 genomes]
rs10764683	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10764684	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10764686	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10829172	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10829173	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10829174	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10829176	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10829180	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10829181	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10829188	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10829197	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10829200	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10829201	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10829202	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10829208	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11015522	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11015549	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11015563	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11015570	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11015586	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11015588	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11015589	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11015590	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11015600	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11597298	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12265358	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1338	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1360007	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1557168	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1557169	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1557170	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1981296	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2185808	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2297147	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2887190	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35805599	0.86[EUR][1000 genomes]
rs3737055	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3758403	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3780920	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3780926	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3824593	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4018760	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4142123	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4747588	0.83[ASN][1000 genomes]
rs6482596	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6482600	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6482601	0.86[ASN][1000 genomes]
rs7067696	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7068375	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7069942	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7070117	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7079282	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7079792	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7079885	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7086553	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7091128	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7091723	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7477806	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7894187	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7897241	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7900024	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7901653	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7901976	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7909684	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7910367	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7910430	0.90[EUR][1000 genomes]
rs7918395	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7919523	0.80[AMR][1000 genomes]
rs7924231	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs882474	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9299837	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11015575	MASTL	cis	Adipose Subcutaneous	GTEx
rs11015575	MASTL	cis	lung	GTEx
rs11015575	MASTL	cis	Artery Tibial	GTEx
rs11015575	MASTL	cis	Skin Sun Exposed Lower leg	GTEx
rs11015575	MASTL	cis	Nerve Tibial	GTEx
rs11015575	MASTL	cis	Muscle Skeletal	GTEx
rs11015575	MASTL	cis	Esophagus Muscularis	GTEx
rs11015575	MASTL	cis	Thyroid	GTEx
rs11015575	YME1L1	Cis_1M	lymphoblastoid	RTeQTL
rs11015575	MASTL	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27441200-27445800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr10:27441200-27446200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr10:27441200-27446200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr10:27441200-27446200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:27441200-27446400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr10:27441200-27446400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr10:27441200-27446400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr10:27441600-27445600	Active TSS	Right Atrium	heart
9	chr10:27441600-27446200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr10:27441800-27445600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr10:27441800-27446000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr10:27441800-27446200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr10:27442000-27445600	Active TSS	Colonic Mucosa	Colon
14	chr10:27442000-27445600	Active TSS	HSMM	muscle
15	chr10:27442000-27445600	Active TSS	NHLF	lung
16	chr10:27442000-27445800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:27442000-27445800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:27442000-27445800	Active TSS	A549	lung
19	chr10:27442000-27446000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:27442000-27446000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:27442000-27446000	Active TSS	Muscle Satellite Cultured Cells	--
22	chr10:27442000-27446000	Active TSS	NHDF-Ad	bronchial
23	chr10:27442000-27446200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr10:27442000-27446200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:27442000-27446200	Active TSS	GM12878-XiMat	blood
26	chr10:27442000-27446200	Active TSS	Hela-S3	cervix
27	chr10:27442200-27445600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr10:27442200-27445600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr10:27442200-27445600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:27442200-27445600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:27442200-27445600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:27442200-27445600	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr10:27442200-27445600	Active TSS	Fetal Intestine Small	intestine
34	chr10:27442200-27445600	Active TSS	Fetal Kidney	kidney
35	chr10:27442200-27445600	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr10:27442200-27445600	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr10:27442200-27445800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:27442200-27446000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:27442200-27446000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr10:27442200-27446000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:27442200-27446000	Active TSS	Thymus	Thymus
42	chr10:27442200-27446000	Active TSS	HMEC	breast
43	chr10:27442200-27446000	Active TSS	K562	blood
44	chr10:27442200-27446000	Active TSS	NH-A	brain
45	chr10:27442200-27446000	Active TSS	Osteobl	bone
46	chr10:27442200-27446200	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr10:27442400-27445600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:27442600-27445600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr10:27442600-27445600	Active TSS	Esophagus	oesophagus
50	chr10:27442600-27445600	Active TSS	Pancreas	Pancrea

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