Variant report

Variant	rs28365962
Chromosome Location	chr10:27443875-27443876
allele	A/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	YY1	chr10:27443656-27444537	GM12878	blood:	n/a	chr10:27444264-27444278
2	MAX	chr10:27443753-27444488	GM12878	blood:	n/a	chr10:27444264-27444273
3	POLR2A	chr10:27442481-27445646	MCF10A-Er-Src	breast:	n/a	n/a
4	RFX5	chr10:27443200-27444376	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:27443752-27445177	ECC-1	luminal epithelium:	n/a	n/a
6	MXI1	chr10:27442288-27445640	SK-N-SH	brain:	n/a	n/a
7	YY1	chr10:27443751-27444511	HepG2	liver:	n/a	chr10:27444264-27444278
8	TAF1	chr10:27443629-27444243	GM12891	blood:	n/a	n/a
9	HCFC1	chr10:27443849-27445289	Hela-S3	cervix:	n/a	n/a
10	TBL1XR1	chr10:27442901-27444557	K562	blood:	n/a	n/a
11	POLR2A	chr10:27442676-27445300	K562	blood:	n/a	n/a
12	CREB1	chr10:27443806-27444518	A549	lung:	n/a	n/a
13	TAF1	chr10:27443720-27444840	ECC-1	luminal epithelium:	n/a	n/a
14	ATF2	chr10:27443638-27444520	GM12878	blood:	n/a	chr10:27444241-27444255
15	POLR2A	chr10:27442747-27445340	GM18505	blood:	n/a	n/a
16	PAX5	chr10:27443041-27444471	GM12878	blood:	n/a	n/a
17	POLR2A	chr10:27442590-27445235	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr10:27443792-27444477	GM12891	blood:	n/a	n/a
19	TAF1	chr10:27442685-27445138	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr10:27442720-27445302	GM12891	blood:	n/a	n/a
21	BATF	chr10:27443809-27444346	GM12878	blood:	n/a	n/a
22	MAX	chr10:27443815-27444591	Hela-S3	cervix:	n/a	chr10:27444264-27444273
23	NFIC	chr10:27443794-27444302	GM12878	blood:	n/a	n/a
24	NFYB	chr10:27443724-27444484	GM12878	blood:	n/a	n/a
25	TAL1	chr10:27442433-27444537	K562	blood:	n/a	n/a
26	BHLHE40	chr10:27443817-27444325	GM12878	blood:	n/a	n/a
27	POLR2A	chr10:27443796-27444562	Gliobla	brain:	n/a	n/a
28	BCL11A	chr10:27443802-27444255	GM12878	blood:	n/a	n/a
29	GABPA	chr10:27442565-27444480	MCF-7	breast:	n/a	chr10:27444258-27444267
30	E2F6	chr10:27443731-27444728	A549	lung:	n/a	chr10:27444245-27444254 chr10:27444611-27444621
31	TBL1XR1	chr10:27442547-27444890	K562	blood:	n/a	n/a
32	EGR1	chr10:27443861-27444500	MCF-7	breast:	n/a	chr10:27444263-27444274 chr10:27444262-27444275 chr10:27444262-27444276 chr10:27444181-27444195 chr10:27444262-27444275 chr10:27444265-27444274 chr10:27444264-27444274 chr10:27444262-27444275 chr10:27444264-27444274 chr10:27444263-27444274 chr10:27444258-27444280 chr10:27444231-27444245
33	GABPA	chr10:27443781-27444407	K562	blood:	n/a	chr10:27444258-27444267
34	ARID3A	chr10:27443848-27444222	HepG2	liver:	n/a	n/a
35	MYC	chr10:27442757-27444574	NB4	blood:	n/a	chr10:27444264-27444273
36	TAF1	chr10:27443779-27444880	K562	blood:	n/a	n/a
37	TAF1	chr10:27443791-27444412	Hela-S3	cervix:	n/a	n/a
38	TEAD4	chr10:27443592-27445033	K562	blood:	n/a	n/a
39	MAX	chr10:27442654-27445195	K562	blood:	n/a	chr10:27444264-27444273
40	ZNF143	chr10:27443859-27444449	GM12878	blood:	n/a	n/a
41	GTF2F1	chr10:27443845-27444464	K562	blood:	n/a	n/a
42	MAX	chr10:27443797-27444350	HepG2	liver:	n/a	chr10:27444264-27444273
43	MAX	chr10:27442752-27444422	NB4	blood:	n/a	chr10:27444264-27444273
44	ELF1	chr10:27442950-27444444	MCF-7	breast:	n/a	chr10:27443348-27443361
45	RELA	chr10:27443068-27445018	GM19193	blood:	n/a	n/a
46	CHD1	chr10:27441735-27445646	IMR90	lung:	n/a	n/a
47	IRF1	chr10:27443820-27444457	K562	blood:	n/a	chr10:27444266-27444280
48	SP1	chr10:27443057-27444899	A549	lung:	n/a	chr10:27444266-27444278 chr10:27444266-27444278
49	YY1	chr10:27443784-27445131	GM12878	blood:	n/a	chr10:27444264-27444278
50	TBP	chr10:27442755-27444955	H1-hESC	embryonic stem cell:	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	chr10:27441850..27444956-chr10:27527496..27532549,10	MCF-7	breast:
5	chr10:27442115..27444569-chr10:27537853..27541412,3	K562	blood:
6	chr10:27443287..27444263-chr12:7080135..7080687,2	Hela-S3	cervix:
7	chr10:27442176..27446829-chr10:27524472..27534671,19	K562	blood:
8	chr10:27422874..27425974-chr10:27441725..27444427,3	K562	blood:
9	chr10:27441114..27446089-chr10:27527560..27532728,23	MCF-7	breast:
10	chr10:27443863..27444566-chr13:22177641..22178350,2	NB4	blood:

Variant related genes	Relation type
MASTL	TF binding region
YME1L1	TF binding region
ENSG00000120539	Chromatin interaction
ENSG00000230445	Chromatin interaction
ENSG00000262412	Chromatin interaction
ENSG00000136758	Chromatin interaction
ENSG00000263577	Chromatin interaction
ENSG00000126749	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000136754	Chromatin interaction
ENSG00000165487	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11015546	0.98[ASN][1000 genomes]
rs12411984	0.89[ASN][1000 genomes]
rs12414055	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12414273	0.87[ASN][1000 genomes]
rs12569491	0.98[ASN][1000 genomes]
rs12569598	0.91[ASN][1000 genomes]
rs12571529	0.98[ASN][1000 genomes]
rs12571579	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12572302	0.98[ASN][1000 genomes]
rs12572707	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12573268	0.82[ASN][1000 genomes]
rs1329993	0.87[ASN][1000 genomes]
rs2297144	0.84[ASN][1000 genomes]
rs3758404	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3758407	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3780924	0.98[ASN][1000 genomes]
rs3780925	0.98[ASN][1000 genomes]
rs3781101	0.85[ASN][1000 genomes]
rs3781102	0.85[ASN][1000 genomes]
rs3802526	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3818633	0.85[ASN][1000 genomes]
rs3824592	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282204	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs41282208	0.82[EUR][1000 genomes]
rs41282216	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs41282218	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4747586	0.98[ASN][1000 genomes]
rs4749222	0.86[ASN][1000 genomes]
rs4749227	0.94[ASN][1000 genomes]
rs4749229	0.98[ASN][1000 genomes]
rs4749232	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56163609	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57132590	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62622019	0.82[EUR][1000 genomes]
rs73598020	0.81[AFR][1000 genomes]
rs73598021	0.81[AFR][1000 genomes]
rs73598022	0.87[AFR][1000 genomes]
rs73598023	0.81[AFR][1000 genomes]
rs73598027	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73598030	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73598031	0.82[EUR][1000 genomes]
rs73598032	0.82[EUR][1000 genomes]
rs73598033	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73598034	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73598035	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598036	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73598037	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28365962	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	chr10:27441800-27444000	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	chr10:27442200-27444400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr10:27442200-27444400	Active TSS	Brain Substantia Nigra	brain
41	chr10:27442200-27444400	Active TSS	Duodenum Mucosa	Duodenum
42	chr10:27442200-27444400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr10:27442200-27444400	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr10:27442200-27444400	Active TSS	Stomach Smooth Muscle	stomach
45	chr10:27442200-27444600	Active TSS	Brain Anterior Caudate	brain
46	chr10:27442200-27444600	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr10:27442200-27444600	Active TSS	Fetal Stomach	stomach
48	chr10:27442200-27444600	Active TSS	Stomach Mucosa	stomach
49	chr10:27442200-27445200	Active TSS	Fetal Brain Male	brain
50	chr10:27442200-27445200	Active TSS	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links