Variant report

Variant	rs3758404
Chromosome Location	chr10:27445123-27445124
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	CEBPB	chr10:27444645-27445124	A549	lung:	n/a	n/a
3	POLR2A	chr10:27443752-27445177	ECC-1	luminal epithelium:	n/a	n/a
4	MXI1	chr10:27442288-27445640	SK-N-SH	brain:	n/a	n/a
5	HCFC1	chr10:27443849-27445289	Hela-S3	cervix:	n/a	n/a
6	YY1	chr10:27443899-27445186	K562	blood:	n/a	chr10:27444264-27444278
7	CEBPB	chr10:27444727-27445129	HepG2	liver:	n/a	n/a
8	KAP1	chr10:27444854-27445321	U2OS	brain:	n/a	n/a
9	POLR2A	chr10:27444495-27445144	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr10:27442676-27445300	K562	blood:	n/a	n/a
11	POLR2A	chr10:27444725-27445340	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr10:27442747-27445340	GM18505	blood:	n/a	n/a
13	POLR2A	chr10:27442590-27445235	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAF1	chr10:27442685-27445138	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr10:27442720-27445302	GM12891	blood:	n/a	n/a
16	HMGN3	chr10:27444022-27445140	K562	blood:	n/a	n/a
17	POLR2A	chr10:27444723-27445239	HCT-116	colon:	n/a	n/a
18	MAX	chr10:27442654-27445195	K562	blood:	n/a	chr10:27444264-27444273
19	POLR2A	chr10:27444658-27445285	K562	blood:	n/a	n/a
20	CEBPB	chr10:27444774-27445146	A549	lung:	n/a	n/a
21	MAX	chr10:27444889-27445500	Hela-S3	cervix:	n/a	n/a
22	CHD1	chr10:27441735-27445646	IMR90	lung:	n/a	n/a
23	YY1	chr10:27443784-27445131	GM12878	blood:	n/a	chr10:27444264-27444278
24	MYC	chr10:27442648-27445323	K562	blood:	n/a	chr10:27444264-27444273
25	POLR2A	chr10:27442755-27445310	GM12878	blood:	n/a	n/a
26	JUND	chr10:27442734-27445243	K562	blood:	n/a	n/a
27	CEBPB	chr10:27444540-27445197	MCF-7	breast:	n/a	n/a
28	YY1	chr10:27444793-27445171	HepG2	liver:	n/a	n/a
29	POLR2A	chr10:27443033-27445132	NB4	blood:	n/a	n/a
30	POLR2A	chr10:27442701-27445350	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr10:27444772-27445184	HepG2	liver:	n/a	n/a
32	POLR2A	chr10:27442752-27445253	GM18951	blood:	n/a	n/a
33	SIN3AK20	chr10:27442752-27445180	HCT-116	colon:	n/a	n/a
34	CEBPB	chr10:27444631-27445186	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr10:27442640-27445329	GM12892	blood:	n/a	n/a
36	POLR2A	chr10:27443773-27445206	MCF-7	breast:	n/a	n/a
37	PAX5	chr10:27444888-27445243	GM12878	blood:	n/a	n/a
38	POLR2A	chr10:27443027-27445251	HEK293	kidney:	n/a	n/a
39	CEBPB	chr10:27444688-27445210	IMR90	lung:	n/a	n/a
40	POLR2A	chr10:27444882-27445209	MCF-7	breast:	n/a	n/a
41	POLR2A	chr10:27442860-27445264	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr10:27442725-27445262	GM12892	blood:	n/a	n/a
43	ZNF384	chr10:27443927-27445132	K562	blood:	n/a	n/a
44	JUN	chr10:27442431-27445590	K562	blood:	n/a	chr10:27442679-27442688 chr10:27444114-27444127
45	POLR2A	chr10:27444947-27445172	GM12878	blood:	n/a	n/a
46	POLR2A	chr10:27442873-27445408	SK-N-MC	brain:	n/a	n/a
47	E2F4	chr10:27442520-27445387	MCF10A-Er-Src	breast:	n/a	chr10:27443066-27443078 chr10:27444245-27444254 chr10:27444294-27444305 chr10:27444611-27444621
48	POLR2A	chr10:27442465-27445493	GM12891	blood:	n/a	n/a
49	SIN3AK20	chr10:27444778-27445162	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr10:27442777-27445261	K562	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:

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

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11015546	0.95[ASN][1000 genomes]
rs12411984	0.86[ASN][1000 genomes]
rs12414055	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12414273	0.84[ASN][1000 genomes]
rs12569491	0.95[ASN][1000 genomes]
rs12569598	0.88[ASN][1000 genomes]
rs12571529	0.95[ASN][1000 genomes]
rs12571579	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12572302	0.95[ASN][1000 genomes]
rs12572707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1329993	0.84[ASN][1000 genomes]
rs2297144	0.81[ASN][1000 genomes]
rs28365962	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3758407	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3780924	0.95[ASN][1000 genomes]
rs3780925	0.95[ASN][1000 genomes]
rs3781101	0.82[ASN][1000 genomes]
rs3781102	0.82[ASN][1000 genomes]
rs3802526	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3818633	0.82[ASN][1000 genomes]
rs3824592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41282216	0.81[AFR][1000 genomes]
rs41282218	0.87[AFR][1000 genomes]
rs4747586	0.95[ASN][1000 genomes]
rs4749222	0.83[ASN][1000 genomes]
rs4749227	0.97[ASN][1000 genomes]
rs4749229	0.95[ASN][1000 genomes]
rs4749232	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56163609	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57132590	0.81[AFR][1000 genomes]
rs73598022	0.81[AFR][1000 genomes]
rs73598027	0.81[AFR][1000 genomes]
rs73598033	0.81[AFR][1000 genomes]
rs73598034	0.87[AFR][1000 genomes]
rs73598035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73598036	0.87[AFR][1000 genomes]
rs73598037	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv24716	chr10:27445112-27445131	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3758404	MASTL	cis	lung	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	chr10:27441800-27445400	Active TSS	HSMMtube	muscle
12	chr10:27441800-27445600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:27441800-27446000	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr10:27441800-27446200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr10:27442000-27445200	Active TSS	Lung	lung
16	chr10:27442000-27445400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr10:27442000-27445400	Active TSS	Left Ventricle	heart
18	chr10:27442000-27445400	Active TSS	Right Ventricle	heart
19	chr10:27442000-27445400	Active TSS	NHEK	skin
20	chr10:27442000-27445600	Active TSS	Colonic Mucosa	Colon
21	chr10:27442000-27445600	Active TSS	HSMM	muscle
22	chr10:27442000-27445600	Active TSS	NHLF	lung
23	chr10:27442000-27445800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:27442000-27445800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:27442000-27445800	Active TSS	A549	lung
26	chr10:27442000-27446000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:27442000-27446000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:27442000-27446000	Active TSS	Muscle Satellite Cultured Cells	--
29	chr10:27442000-27446000	Active TSS	NHDF-Ad	bronchial
30	chr10:27442000-27446200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr10:27442000-27446200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:27442000-27446200	Active TSS	GM12878-XiMat	blood
33	chr10:27442000-27446200	Active TSS	Hela-S3	cervix
34	chr10:27442200-27445200	Active TSS	Fetal Brain Male	brain
35	chr10:27442200-27445200	Active TSS	Ovary	ovary
36	chr10:27442200-27445400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr10:27442200-27445400	Active TSS	Fetal Intestine Large	intestine
38	chr10:27442200-27445400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr10:27442200-27445400	Active TSS	Fetal Lung	lung
40	chr10:27442200-27445400	Active TSS	Placenta Amnion	Placenta Amnion
41	chr10:27442200-27445600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr10:27442200-27445600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr10:27442200-27445600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:27442200-27445600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr10:27442200-27445600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr10:27442200-27445600	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr10:27442200-27445600	Active TSS	Fetal Intestine Small	intestine
48	chr10:27442200-27445600	Active TSS	Fetal Kidney	kidney
49	chr10:27442200-27445600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr10:27442200-27445600	Active TSS	Sigmoid Colon	Sigmoid Colon

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