Variant report

Variant	rs73598035
Chromosome Location	chr10:27446340-27446341
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr10:27446179-27446379	HepG2	liver:	n/a	n/a
2	POLR2A	chr10:27446049-27446487	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr10:27446098-27446424	HepG2	liver:	n/a	n/a
4	FOXA1	chr10:27446115-27446436	HepG2	liver:	n/a	n/a
5	FOXA1	chr10:27446093-27446463	HepG2	liver:	n/a	n/a
6	POLR2A	chr10:27446063-27446477	GM12878	blood:	n/a	n/a
7	FOXA1	chr10:27446120-27446512	HepG2	liver:	n/a	n/a
8	FOXA1	chr10:27446066-27446385	HepG2	liver:	n/a	n/a
9	POLR2A	chr10:27446169-27446537	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr10:27446090-27446381	GM12878	blood:	n/a	n/a
11	MYC	chr10:27446182-27446643	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr10:27446215-27446381	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr10:27446137-27447684	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:27446193..27447784-chr10:27452402..27455185,2	K562	blood:
2	chr10:27446193..27448131-chr10:27454155..27455993,2	K562	blood:
3	chr10:27443444..27445356-chr10:27445718..27447282,2	MCF-7	breast:
4	chr10:27446133..27449073-chr10:27468277..27471511,3	K562	blood:
5	chr10:27425252..27427965-chr10:27444886..27446851,2	MCF-7	breast:
6	chr10:27442176..27446829-chr10:27524472..27534671,19	K562	blood:
7	chr10:27445313..27446905-chr10:27529992..27532345,2	MCF-7	breast:

No data

Variant related genes	Relation type
YME1L1	TF binding region
ENSG00000262412	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000120539	Chromatin interaction
ENSG00000263577	Chromatin interaction
ENSG00000136758	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

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	1.00[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]
rs28365962	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758404	1.00[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];0.93[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282204	0.82[EUR][1000 genomes]
rs41282208	0.82[EUR][1000 genomes]
rs41282216	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs41282218	0.87[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	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62622019	0.82[EUR][1000 genomes]
rs73598022	0.81[AFR][1000 genomes]
rs73598027	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73598030	0.82[EUR][1000 genomes]
rs73598031	0.82[EUR][1000 genomes]
rs73598032	0.82[EUR][1000 genomes]
rs73598033	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73598034	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73598036	0.87[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
rs73598035	MASTL	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27441200-27446400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr10:27441200-27446400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr10:27441200-27446400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr10:27444800-27446400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr10:27445000-27447400	Enhancers	Stomach Mucosa	stomach
6	chr10:27445000-27454200	Weak transcription	Brain Substantia Nigra	brain
7	chr10:27445000-27486200	Weak transcription	Fetal Heart	heart
8	chr10:27445200-27447600	Weak transcription	Lung	lung
9	chr10:27445200-27453000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr10:27445200-27454200	Weak transcription	Ovary	ovary
11	chr10:27445200-27454400	Weak transcription	Gastric	stomach
12	chr10:27445400-27446400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr10:27445400-27446400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr10:27445400-27446400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr10:27445400-27446400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:27445400-27446400	Enhancers	Fetal Brain Male	brain
17	chr10:27445400-27447200	Weak transcription	Colon Smooth Muscle	Colon
18	chr10:27445400-27447400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr10:27445400-27447600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr10:27445400-27447600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr10:27445400-27450600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr10:27445400-27450600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr10:27445400-27452600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:27445400-27452800	Weak transcription	Left Ventricle	heart
25	chr10:27445400-27452800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr10:27445400-27453000	Weak transcription	Right Ventricle	heart
27	chr10:27445400-27453000	Weak transcription	HSMMtube	muscle
28	chr10:27445400-27454200	Weak transcription	Brain Anterior Caudate	brain
29	chr10:27445400-27454200	Weak transcription	Brain Hippocampus Middle	brain
30	chr10:27445400-27454200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr10:27445400-27454400	Weak transcription	Aorta	Aorta
32	chr10:27445400-27454400	Weak transcription	Brain Angular Gyrus	brain
33	chr10:27445400-27490800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr10:27445600-27446400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr10:27445600-27446400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr10:27445600-27446400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr10:27445600-27446400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr10:27445600-27446400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr10:27445600-27446400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:27445600-27446400	Enhancers	Fetal Lung	lung
41	chr10:27445600-27446400	Enhancers	Fetal Thymus	thymus
42	chr10:27445600-27446400	Flanking Active TSS	HepG2	liver
43	chr10:27445600-27446600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:27445600-27446600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr10:27445600-27446600	Enhancers	NHEK	skin
46	chr10:27445600-27447000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr10:27445600-27447200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:27445600-27447200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr10:27445600-27447200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr10:27445600-27447200	Weak transcription	Fetal Intestine Small	intestine

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