Variant report

Variant	rs3758403
Chromosome Location	chr10:27443623-27443624
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	RFX5	chr10:27443200-27444376	GM12878	blood:	n/a	n/a
3	MXI1	chr10:27442288-27445640	SK-N-SH	brain:	n/a	n/a
4	BCL3	chr10:27442986-27443682	A549	lung:	n/a	n/a
5	TBL1XR1	chr10:27442901-27444557	K562	blood:	n/a	n/a
6	POLR2A	chr10:27442676-27445300	K562	blood:	n/a	n/a
7	YY1	chr10:27442583-27443769	SK-N-SH	brain:	n/a	chr10:27442645-27442654 chr10:27443272-27443284
8	ZNF384	chr10:27443041-27443676	K562	blood:	n/a	n/a
9	POLR2A	chr10:27442747-27445340	GM18505	blood:	n/a	n/a
10	PAX5	chr10:27443041-27444471	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:27442590-27445235	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr10:27442685-27445138	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr10:27442720-27445302	GM12891	blood:	n/a	n/a
14	ELF1	chr10:27442958-27443672	GM12878	blood:	n/a	chr10:27443348-27443361
15	TAL1	chr10:27442433-27444537	K562	blood:	n/a	n/a
16	FOXA2	chr10:27443206-27443681	A549	lung:	n/a	n/a
17	CTCF	chr10:27443620-27443770	HMF	breast:	n/a	n/a
18	GABPA	chr10:27442565-27444480	MCF-7	breast:	n/a	chr10:27444258-27444267
19	TBL1XR1	chr10:27442547-27444890	K562	blood:	n/a	n/a
20	MYC	chr10:27442757-27444574	NB4	blood:	n/a	chr10:27444264-27444273
21	TEAD4	chr10:27443592-27445033	K562	blood:	n/a	n/a
22	MAX	chr10:27442654-27445195	K562	blood:	n/a	chr10:27444264-27444273
23	ZNF384	chr10:27443106-27443721	GM12878	blood:	n/a	n/a
24	MAX	chr10:27442752-27444422	NB4	blood:	n/a	chr10:27444264-27444273
25	ELF1	chr10:27442950-27444444	MCF-7	breast:	n/a	chr10:27443348-27443361
26	RELA	chr10:27443068-27445018	GM19193	blood:	n/a	n/a
27	CTCF	chr10:27443580-27443730	SK-N-SH_RA	brain:	n/a	n/a
28	CHD1	chr10:27441735-27445646	IMR90	lung:	n/a	n/a
29	SP1	chr10:27443057-27444899	A549	lung:	n/a	chr10:27444266-27444278 chr10:27444266-27444278
30	TBP	chr10:27442755-27444955	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr10:27442724-27443627	K562	blood:	n/a	n/a
32	MYC	chr10:27442648-27445323	K562	blood:	n/a	chr10:27444264-27444273
33	POLR2A	chr10:27442755-27445310	GM12878	blood:	n/a	n/a
34	CTCF	chr10:27443620-27443770	GM12866	blood:	n/a	n/a
35	JUND	chr10:27442734-27445243	K562	blood:	n/a	n/a
36	PML	chr10:27442615-27445048	GM12878	blood:	n/a	n/a
37	KAP1	chr10:27442850-27444961	HEK293	kidney:	n/a	n/a
38	RUNX3	chr10:27443606-27444557	GM12878	blood:	n/a	n/a
39	SIN3AK20	chr10:27442839-27444758	MCF-7	breast:	n/a	n/a
40	JUN	chr10:27442882-27444486	K562	blood:	n/a	chr10:27444114-27444127
41	POLR2A	chr10:27443033-27445132	NB4	blood:	n/a	n/a
42	POLR2A	chr10:27442701-27445350	PFSK-1	brain:	n/a	n/a
43	ELF1	chr10:27442941-27443633	MCF-7	breast:	n/a	chr10:27443348-27443361
44	CTCF	chr10:27443189-27443881	K562	blood:	n/a	n/a
45	HCFC1	chr10:27442820-27445014	K562	blood:	n/a	n/a
46	CTCF	chr10:27443211-27444381	GM12878	blood:	n/a	n/a
47	MAX	chr10:27442887-27444657	K562	blood:	n/a	chr10:27444264-27444273
48	EBF1	chr10:27443139-27444366	GM12878	blood:	n/a	n/a
49	POLR2A	chr10:27442606-27444494	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr10:27442752-27445253	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:27442755..27444375-chr10:27457969..27459469,2	K562	blood:
2	chr10:27149519..27151430-chr10:27442633..27444807,2	K562	blood:
3	chr10:27442535..27445982-chr10:27528407..27534290,13	K562	blood:
4	chr10:27442875..27443728-chr16:3450732..3451677,2	Hela-S3	cervix:
5	chr10:27441850..27444956-chr10:27527496..27532549,10	MCF-7	breast:
6	chr10:27442115..27444569-chr10:27537853..27541412,3	K562	blood:
7	chr10:27443287..27444263-chr12:7080135..7080687,2	Hela-S3	cervix:
8	chr10:27442176..27446829-chr10:27524472..27534671,19	K562	blood:
9	chr10:27422874..27425974-chr10:27441725..27444427,3	K562	blood:
10	chr10:27441114..27446089-chr10:27527560..27532728,23	MCF-7	breast:

Variant related genes	Relation type
YME1L1	TF binding region
MASTL	TF binding region
ENSG00000230445	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000120539	Chromatin interaction
ENSG00000140987	Chromatin interaction
ENSG00000103343	Chromatin interaction
ENSG00000136758	Chromatin interaction
ENSG00000263577	Chromatin interaction
ENSG00000136754	Chromatin interaction
ENSG00000126749	Chromatin interaction
ENSG00000262412	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10734064	0.84[ASN][1000 genomes]
rs10741130	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10764664	0.81[ASN][1000 genomes]
rs10764665	0.81[ASN][1000 genomes]
rs10764667	0.82[ASN][1000 genomes]
rs10764668	0.84[ASN][1000 genomes]
rs10764669	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10764673	0.87[ASN][1000 genomes]
rs10764675	0.89[ASN][1000 genomes]
rs10764676	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10764680	0.87[ASN][1000 genomes]
rs10764683	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10764684	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10764686	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10829172	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10829173	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10829174	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10829176	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10829180	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10829181	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10829185	0.86[ASN][1000 genomes]
rs10829188	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10829191	0.89[ASN][1000 genomes]
rs10829192	0.89[ASN][1000 genomes]
rs10829193	0.89[ASN][1000 genomes]
rs10829197	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10829200	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10829201	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10829202	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10829208	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11015522	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11015530	0.81[ASN][1000 genomes]
rs11015532	0.84[ASN][1000 genomes]
rs11015538	0.89[ASN][1000 genomes]
rs11015542	0.89[ASN][1000 genomes]
rs11015548	0.89[ASN][1000 genomes]
rs11015549	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11015554	0.89[ASN][1000 genomes]
rs11015555	0.89[ASN][1000 genomes]
rs11015556	0.89[ASN][1000 genomes]
rs11015558	0.89[ASN][1000 genomes]
rs11015559	0.89[ASN][1000 genomes]
rs11015560	0.89[ASN][1000 genomes]
rs11015563	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11015564	0.89[ASN][1000 genomes]
rs11015565	0.89[ASN][1000 genomes]
rs11015566	0.89[ASN][1000 genomes]
rs11015570	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11015571	0.89[ASN][1000 genomes]
rs11015575	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11015586	0.94[ASN][1000 genomes]
rs11015588	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11015589	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11015590	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11015600	0.84[ASN][1000 genomes]
rs11597298	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11813670	0.89[ASN][1000 genomes]
rs12265358	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12571792	0.89[ASN][1000 genomes]
rs12572344	0.89[ASN][1000 genomes]
rs12762457	0.81[ASN][1000 genomes]
rs12766193	0.81[ASN][1000 genomes]
rs12769335	0.89[ASN][1000 genomes]
rs12784464	0.84[ASN][1000 genomes]
rs1338	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1360007	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1557168	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1557169	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1557170	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1981296	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2185808	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2274634	0.89[ASN][1000 genomes]
rs2274635	0.88[ASN][1000 genomes]
rs2274743	0.89[ASN][1000 genomes]
rs2297143	0.88[ASN][1000 genomes]
rs2297147	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2297151	0.89[ASN][1000 genomes]
rs2297152	0.88[ASN][1000 genomes]
rs2368217	0.89[ASN][1000 genomes]
rs2887190	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3737055	0.83[ASN][1000 genomes]
rs3780920	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3780921	0.89[ASN][1000 genomes]
rs3780922	0.89[ASN][1000 genomes]
rs3780926	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3824593	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3932559	0.89[ASN][1000 genomes]
rs4018760	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4142123	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4481929	0.81[ASN][1000 genomes]
rs4747585	0.85[ASN][1000 genomes]
rs4749226	0.89[ASN][1000 genomes]
rs55741077	0.85[ASN][1000 genomes]
rs6482596	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6482600	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6482601	0.94[ASN][1000 genomes]
rs67425403	0.89[ASN][1000 genomes]
rs7067696	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7068375	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7069942	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7070117	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7079282	0.82[ASN][1000 genomes]
rs7079792	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7079885	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7086311	0.81[ASN][1000 genomes]
rs7086553	0.84[ASN][1000 genomes]
rs7091128	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7091723	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7477806	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7894187	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7896012	0.89[ASN][1000 genomes]
rs7897241	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7900024	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7901653	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7901976	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7909684	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7910367	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7910430	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7910688	0.89[ASN][1000 genomes]
rs7914630	0.89[ASN][1000 genomes]
rs7918395	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7919523	0.81[ASN][1000 genomes]
rs7921980	0.89[ASN][1000 genomes]
rs7924231	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs882474	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9299837	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9971193	0.89[ASN][1000 genomes]
rs9971335	0.85[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:12)

SNP	Gene	Cis/trans	Tissue	Source
rs3758403	MASTL	cis	Artery Tibial	GTEx
rs3758403	MASTL	cis	Muscle Skeletal	GTEx
rs3758403	MASTL	cis	Stomach	GTEx
rs3758403	MASTL	cis	Esophagus Muscularis	GTEx
rs3758403	YME1L1	Cis_1M	lymphoblastoid	RTeQTL
rs3758403	LINC00202-1	cis	Nerve Tibial	GTEx
rs3758403	MASTL	cis	lung	GTEx
rs3758403	MASTL	cis	Whole Blood	GTEx
rs3758403	MASTL	cis	Nerve Tibial	GTEx
rs3758403	MASTL	cis	Skin Sun Exposed Lower leg	GTEx
rs3758403	MASTL	cis	Thyroid	GTEx
rs3758403	MASTL	cis	Adipose Subcutaneous	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	chr10:27441600-27445400	Active TSS	Aorta	Aorta
9	chr10:27441600-27445600	Active TSS	Right Atrium	heart
10	chr10:27441600-27446200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr10:27441800-27444000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr10:27441800-27444400	Active TSS	Psoas Muscle	Psoas
13	chr10:27441800-27445400	Active TSS	HSMMtube	muscle
14	chr10:27441800-27445600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr10:27441800-27446000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr10:27441800-27446200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr10:27442000-27444400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:27442000-27444600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:27442000-27445000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
20	chr10:27442000-27445200	Active TSS	Lung	lung
21	chr10:27442000-27445400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr10:27442000-27445400	Active TSS	Left Ventricle	heart
23	chr10:27442000-27445400	Active TSS	Right Ventricle	heart
24	chr10:27442000-27445400	Active TSS	NHEK	skin
25	chr10:27442000-27445600	Active TSS	Colonic Mucosa	Colon
26	chr10:27442000-27445600	Active TSS	HSMM	muscle
27	chr10:27442000-27445600	Active TSS	NHLF	lung
28	chr10:27442000-27445800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:27442000-27445800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:27442000-27445800	Active TSS	A549	lung
31	chr10:27442000-27446000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr10:27442000-27446000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:27442000-27446000	Active TSS	Muscle Satellite Cultured Cells	--
34	chr10:27442000-27446000	Active TSS	NHDF-Ad	bronchial
35	chr10:27442000-27446200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr10:27442000-27446200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr10:27442000-27446200	Active TSS	GM12878-XiMat	blood
38	chr10:27442000-27446200	Active TSS	Hela-S3	cervix
39	chr10:27442200-27443800	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr10:27442200-27444400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr10:27442200-27444400	Active TSS	Brain Substantia Nigra	brain
42	chr10:27442200-27444400	Active TSS	Duodenum Mucosa	Duodenum
43	chr10:27442200-27444400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr10:27442200-27444400	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr10:27442200-27444400	Active TSS	Stomach Smooth Muscle	stomach
46	chr10:27442200-27444600	Active TSS	Brain Anterior Caudate	brain
47	chr10:27442200-27444600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr10:27442200-27444600	Active TSS	Fetal Stomach	stomach
49	chr10:27442200-27444600	Active TSS	Stomach Mucosa	stomach
50	chr10:27442200-27445200	Active TSS	Fetal Brain Male	brain

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