Variant report

Variant	rs73598034
Chromosome Location	chr10:27446079-27446080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:27446049-27446487	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr10:27446063-27446477	GM12878	blood:	n/a	n/a
3	FOXA1	chr10:27446066-27446385	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:27443444..27445356-chr10:27445718..27447282,2	MCF-7	breast:
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:
5	chr10:27445313..27446905-chr10:27529992..27532345,2	MCF-7	breast:

No data

Variant related genes	Relation type
YME1L1	TF binding region
ENSG00000120539	Chromatin interaction
ENSG00000263577	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000262412	Chromatin interaction
ENSG00000136758	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]
rs41282218	1.00[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]
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
rs73598034	MASTL	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27441200-27446200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr10:27441200-27446200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr10:27441200-27446200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:27441200-27446400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr10:27441200-27446400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr10:27441200-27446400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr10:27441600-27446200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr10:27441800-27446200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr10:27442000-27446200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr10:27442000-27446200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:27442000-27446200	Active TSS	GM12878-XiMat	blood
12	chr10:27442000-27446200	Active TSS	Hela-S3	cervix
13	chr10:27442200-27446200	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr10:27444800-27446400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr10:27445000-27447400	Enhancers	Stomach Mucosa	stomach
16	chr10:27445000-27454200	Weak transcription	Brain Substantia Nigra	brain
17	chr10:27445000-27486200	Weak transcription	Fetal Heart	heart
18	chr10:27445200-27447600	Weak transcription	Lung	lung
19	chr10:27445200-27453000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr10:27445200-27454200	Weak transcription	Ovary	ovary
21	chr10:27445200-27454400	Weak transcription	Gastric	stomach
22	chr10:27445400-27446200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr10:27445400-27446400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr10:27445400-27446400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr10:27445400-27446400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr10:27445400-27446400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:27445400-27446400	Enhancers	Fetal Brain Male	brain
28	chr10:27445400-27447200	Weak transcription	Colon Smooth Muscle	Colon
29	chr10:27445400-27447400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr10:27445400-27447600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr10:27445400-27447600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr10:27445400-27450600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr10:27445400-27450600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr10:27445400-27452600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr10:27445400-27452800	Weak transcription	Left Ventricle	heart
36	chr10:27445400-27452800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr10:27445400-27453000	Weak transcription	Right Ventricle	heart
38	chr10:27445400-27453000	Weak transcription	HSMMtube	muscle
39	chr10:27445400-27454200	Weak transcription	Brain Anterior Caudate	brain
40	chr10:27445400-27454200	Weak transcription	Brain Hippocampus Middle	brain
41	chr10:27445400-27454200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr10:27445400-27454400	Weak transcription	Aorta	Aorta
43	chr10:27445400-27454400	Weak transcription	Brain Angular Gyrus	brain
44	chr10:27445400-27490800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr10:27445600-27446200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr10:27445600-27446200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr10:27445600-27446200	Enhancers	Primary T cells fromperipheralblood	blood
48	chr10:27445600-27446200	Weak transcription	Fetal Brain Female	brain
49	chr10:27445600-27446200	Weak transcription	NHLF	lung
50	chr10:27445600-27446400	Enhancers	Primary monocytes fromperipheralblood	blood

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