Variant report

Variant	rs73598015
Chromosome Location	chr10:27390530-27390531
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr10:27390375-27390738	GM12878	blood:	n/a	n/a
2	BCLAF1	chr10:27390364-27390731	GM12878	blood:	n/a	n/a
3	EBF1	chr10:27390333-27390672	GM12878	blood:	n/a	n/a
4	YY1	chr10:27390274-27390559	GM12878	blood:	n/a	n/a
5	RUNX3	chr10:27390303-27390758	GM12878	blood:	n/a	n/a
6	PAX5	chr10:27390269-27390784	GM12878	blood:	n/a	n/a
7	ATF2	chr10:27390317-27390767	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:27390218-27390683	GM12878	blood:	n/a	n/a
9	NFIC	chr10:27390213-27390713	GM12878	blood:	n/a	n/a
10	BATF	chr10:27390313-27390663	GM12878	blood:	n/a	n/a
11	EP300	chr10:27390397-27390703	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:27390309-27390639	GM12878	blood:	n/a	n/a
13	BCL11A	chr10:27390367-27390761	GM12878	blood:	n/a	n/a
14	RUNX3	chr10:27390316-27390770	GM12878	blood:	n/a	n/a
15	POLR2A	chr10:27390510-27390689	HepG2	liver:	n/a	n/a
16	SP1	chr10:27390350-27390756	GM12878	blood:	n/a	n/a
17	BATF	chr10:27390288-27390769	GM12878	blood:	n/a	n/a
18	PML	chr10:27390279-27390795	GM12878	blood:	n/a	n/a
19	FOXM1	chr10:27390301-27390758	GM12878	blood:	n/a	n/a
20	IRF4	chr10:27390281-27390765	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:27390343..27392480-chr10:27398264..27400217,2	K562	blood:
2	chr10:27389620..27391351-chr10:27392502..27395276,2	MCF-7	breast:
3	chr10:27387680..27390568-chr10:27529145..27530975,2	K562	blood:

No data

Variant related genes	Relation type
ANKRD26	TF binding region
ENSG00000107897	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11015603	1.00[ASN][1000 genomes]
rs12356360	1.00[ASN][1000 genomes]
rs12360088	1.00[ASN][1000 genomes]
rs12414055	0.82[EUR][1000 genomes]
rs12571579	0.82[EUR][1000 genomes]
rs12762717	0.83[AFR][1000 genomes]
rs16927620	0.85[AMR][1000 genomes];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]
rs2297146	0.83[AFR][1000 genomes]
rs2297150	0.83[AFR][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]
rs2987452	1.00[ASN][1000 genomes]
rs2995499	1.00[ASN][1000 genomes]
rs34111633	0.83[AFR][1000 genomes]
rs3802526	0.82[EUR][1000 genomes]
rs41282204	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282208	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282216	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282218	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41299222	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522064	1.00[ASN][1000 genomes]
rs4749232	0.82[EUR][1000 genomes]
rs481629	1.00[ASN][1000 genomes]
rs56163609	0.82[EUR][1000 genomes]
rs57132590	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59162492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62622019	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482608	1.00[ASN][1000 genomes]
rs670157	1.00[ASN][1000 genomes]
rs67068137	0.83[AFR][1000 genomes]
rs73596346	1.00[AMR][1000 genomes]
rs73596349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73596350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73596351	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73596353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73596354	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73598019	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598020	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598021	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598022	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598023	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598024	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598027	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598030	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73598031	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598032	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598033	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598034	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598036	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598037	0.82[EUR][1000 genomes]
rs73598041	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598044	1.00[ASN][1000 genomes]
rs788214	1.00[ASN][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	esv3364452	chr10:27385286-27395686	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv3369347	chr10:27385331-27395478	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73598015	MASTL	cis	lung	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27389600-27390600	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr10:27389600-27390600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr10:27389600-27390600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr10:27389600-27390600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr10:27389600-27390600	Flanking Active TSS	GM12878-XiMat	blood
6	chr10:27389800-27390600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr10:27389800-27399600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr10:27389800-27441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:27390000-27390600	Enhancers	Fetal Brain Male	brain
10	chr10:27390000-27391200	Enhancers	Fetal Thymus	thymus
11	chr10:27390000-27393800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:27390000-27393800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:27390000-27393800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:27390000-27393800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr10:27390000-27393800	Weak transcription	Brain Germinal Matrix	brain
16	chr10:27390000-27393800	Weak transcription	Fetal Intestine Small	intestine
17	chr10:27390000-27393800	Weak transcription	Fetal Stomach	stomach
18	chr10:27390000-27394000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:27390000-27394000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:27390000-27394000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:27390000-27394000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr10:27390000-27394000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:27390000-27396200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:27390000-27396200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:27390000-27396600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr10:27390000-27396600	Weak transcription	Fetal Lung	lung
27	chr10:27390000-27396800	Weak transcription	Fetal Intestine Large	intestine
28	chr10:27390000-27396800	Weak transcription	Fetal Kidney	kidney
29	chr10:27390000-27396800	Weak transcription	A549	lung
30	chr10:27390000-27397000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr10:27390000-27398400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr10:27390000-27398600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr10:27390000-27398800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:27390000-27399200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr10:27390000-27400200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr10:27390000-27400200	Weak transcription	HMEC	breast
37	chr10:27390000-27400600	Weak transcription	NHLF	lung
38	chr10:27390000-27401200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr10:27390000-27406400	Weak transcription	Small Intestine	intestine
40	chr10:27390000-27408000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr10:27390000-27442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr10:27390200-27390600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr10:27390200-27390600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:27390200-27390600	Enhancers	Fetal Muscle Trunk	muscle
45	chr10:27390200-27390600	Enhancers	Placenta	Placenta
46	chr10:27390200-27390600	Flanking Active TSS	HepG2	liver
47	chr10:27390200-27391000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr10:27390200-27391200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr10:27390200-27393800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:27390200-27393800	Weak transcription	HSMM	muscle

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