Variant report

Variant	rs41282218
Chromosome Location	chr10:27444578-27444579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:214)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:214 , 50 per page) page: 1 2 3 4 5

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	POLR2A	chr10:27443752-27445177	ECC-1	luminal epithelium:	n/a	n/a
3	MXI1	chr10:27442288-27445640	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr10:27444109-27444637	K562	blood:	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	POLR2A	chr10:27444495-27445144	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr10:27442676-27445300	K562	blood:	n/a	n/a
9	TAF1	chr10:27443720-27444840	ECC-1	luminal epithelium:	n/a	n/a
10	ATF1	chr10:27443936-27444775	K562	blood:	n/a	chr10:27444241-27444255
11	PAX5	chr10:27444475-27444817	GM12878	blood:	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	MAX	chr10:27443815-27444591	Hela-S3	cervix:	n/a	chr10:27444264-27444273
17	HMGN3	chr10:27444022-27445140	K562	blood:	n/a	n/a
18	E2F6	chr10:27443731-27444728	A549	lung:	n/a	chr10:27444245-27444254 chr10:27444611-27444621
19	TBL1XR1	chr10:27442547-27444890	K562	blood:	n/a	n/a
20	TAF1	chr10:27443779-27444880	K562	blood:	n/a	n/a
21	TEAD4	chr10:27443592-27445033	K562	blood:	n/a	n/a
22	MAX	chr10:27442654-27445195	K562	blood:	n/a	chr10:27444264-27444273
23	RELA	chr10:27443068-27445018	GM19193	blood:	n/a	n/a
24	CHD1	chr10:27441735-27445646	IMR90	lung:	n/a	n/a
25	SP1	chr10:27443057-27444899	A549	lung:	n/a	chr10:27444266-27444278 chr10:27444266-27444278
26	YY1	chr10:27443784-27445131	GM12878	blood:	n/a	chr10:27444264-27444278
27	TBP	chr10:27442755-27444955	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr10:27442648-27445323	K562	blood:	n/a	chr10:27444264-27444273
29	POLR2A	chr10:27442755-27445310	GM12878	blood:	n/a	n/a
30	JUND	chr10:27442734-27445243	K562	blood:	n/a	n/a
31	CEBPB	chr10:27444540-27445197	MCF-7	breast:	n/a	n/a
32	PML	chr10:27442615-27445048	GM12878	blood:	n/a	n/a
33	KAP1	chr10:27442850-27444961	HEK293	kidney:	n/a	n/a
34	SIN3AK20	chr10:27442839-27444758	MCF-7	breast:	n/a	n/a
35	MAX	chr10:27443737-27444782	A549	lung:	n/a	chr10:27444264-27444273
36	POLR2A	chr10:27443033-27445132	NB4	blood:	n/a	n/a
37	POLR2A	chr10:27442701-27445350	PFSK-1	brain:	n/a	n/a
38	HCFC1	chr10:27442820-27445014	K562	blood:	n/a	n/a
39	UBTF	chr10:27444044-27444707	K562	blood:	n/a	n/a
40	MAX	chr10:27442887-27444657	K562	blood:	n/a	chr10:27444264-27444273
41	POLR2A	chr10:27442752-27445253	GM18951	blood:	n/a	n/a
42	TCF12	chr10:27443783-27444698	ECC-1	luminal epithelium:	n/a	n/a
43	SIN3AK20	chr10:27442752-27445180	HCT-116	colon:	n/a	n/a
44	CREB1	chr10:27443034-27444721	K562	blood:	n/a	n/a
45	POLR2A	chr10:27442860-27444675	U87	brain:	n/a	n/a
46	POLR2A	chr10:27442640-27445329	GM12892	blood:	n/a	n/a
47	POLR2A	chr10:27443773-27445206	MCF-7	breast:	n/a	n/a
48	TAF1	chr10:27443751-27444998	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr10:27442692-27444634	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr10:27443027-27445251	HEK293	kidney:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:27149519..27151430-chr10:27442633..27444807,2	K562	blood:
2	chr10:27444088..27444724-chr19:49140196..49141060,2	NB4	blood:
3	chr10:27442535..27445982-chr10:27528407..27534290,13	K562	blood:
4	chr1:145382389..145383023-chr10:27444086..27444882,2	Hela-S3	cervix:
5	chr10:27441850..27444956-chr10:27527496..27532549,10	MCF-7	breast:
6	chr10:27442176..27446829-chr10:27524472..27534671,19	K562	blood:
7	chr10:27441114..27446089-chr10:27527560..27532728,23	MCF-7	breast:

No data

Variant related genes	Relation type
YME1L1	TF binding region
ENSG00000262412	Chromatin interaction
ENSG00000136754	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000105516	Chromatin interaction
ENSG00000263577	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000233396	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11015603	1.00[ASN][1000 genomes]
rs12356360	1.00[ASN][1000 genomes]
rs12360088	1.00[ASN][1000 genomes]
rs12572707	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16927620	1.00[ASN][1000 genomes]
rs16927627	1.00[ASN][1000 genomes]
rs16927642	1.00[ASN][1000 genomes]
rs16927653	1.00[ASN][1000 genomes]
rs16927663	1.00[ASN][1000 genomes]
rs1753423	1.00[ASN][1000 genomes]
rs1775349	1.00[ASN][1000 genomes]
rs1970541	1.00[ASN][1000 genomes]
rs2479908	1.00[ASN][1000 genomes]
rs2479909	1.00[ASN][1000 genomes]
rs2479911	1.00[ASN][1000 genomes]
rs2483490	1.00[ASN][1000 genomes]
rs2483491	1.00[ASN][1000 genomes]
rs2483492	1.00[ASN][1000 genomes]
rs2489372	1.00[ASN][1000 genomes]
rs28365962	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2987452	1.00[ASN][1000 genomes]
rs2995499	1.00[ASN][1000 genomes]
rs3758404	0.87[AFR][1000 genomes]
rs3824592	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs41282204	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282208	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282216	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41299222	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522064	1.00[ASN][1000 genomes]
rs481629	1.00[ASN][1000 genomes]
rs57132590	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59162492	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62622019	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482608	1.00[ASN][1000 genomes]
rs670157	1.00[ASN][1000 genomes]
rs73596346	0.93[AMR][1000 genomes]
rs73596349	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73596350	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73596351	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73596353	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73596354	1.00[ASN][1000 genomes]
rs73598015	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598019	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598020	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598021	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598022	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598023	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598024	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598027	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598030	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73598031	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598032	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598033	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598035	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73598036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598041	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598044	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs788214	1.00[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
rs41282218	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	chr10:27442000-27444600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr10:27442000-27445000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
17	chr10:27442000-27445200	Active TSS	Lung	lung
18	chr10:27442000-27445400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr10:27442000-27445400	Active TSS	Left Ventricle	heart
20	chr10:27442000-27445400	Active TSS	Right Ventricle	heart
21	chr10:27442000-27445400	Active TSS	NHEK	skin
22	chr10:27442000-27445600	Active TSS	Colonic Mucosa	Colon
23	chr10:27442000-27445600	Active TSS	HSMM	muscle
24	chr10:27442000-27445600	Active TSS	NHLF	lung
25	chr10:27442000-27445800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:27442000-27445800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr10:27442000-27445800	Active TSS	A549	lung
28	chr10:27442000-27446000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:27442000-27446000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:27442000-27446000	Active TSS	Muscle Satellite Cultured Cells	--
31	chr10:27442000-27446000	Active TSS	NHDF-Ad	bronchial
32	chr10:27442000-27446200	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr10:27442000-27446200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:27442000-27446200	Active TSS	GM12878-XiMat	blood
35	chr10:27442000-27446200	Active TSS	Hela-S3	cervix
36	chr10:27442200-27444600	Active TSS	Brain Anterior Caudate	brain
37	chr10:27442200-27444600	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr10:27442200-27444600	Active TSS	Fetal Stomach	stomach
39	chr10:27442200-27444600	Active TSS	Stomach Mucosa	stomach
40	chr10:27442200-27445200	Active TSS	Fetal Brain Male	brain
41	chr10:27442200-27445200	Active TSS	Ovary	ovary
42	chr10:27442200-27445400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr10:27442200-27445400	Active TSS	Fetal Intestine Large	intestine
44	chr10:27442200-27445400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr10:27442200-27445400	Active TSS	Fetal Lung	lung
46	chr10:27442200-27445400	Active TSS	Placenta Amnion	Placenta Amnion
47	chr10:27442200-27445600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr10:27442200-27445600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr10:27442200-27445600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr10:27442200-27445600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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