Variant report

Variant	rs1253045
Chromosome Location	chr10:27445726-27445727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:27445484-27445860	GM12878	blood:	n/a	n/a
2	CTCF	chr10:27445620-27445770	HCPEpiC	choroid plexus:	n/a	n/a
3	ZNF384	chr10:27445462-27445900	K562	blood:	n/a	n/a
4	POLR2A	chr10:27441880-27445789	IMR90	lung:	n/a	n/a
5	ZNF384	chr10:27445596-27445841	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:27445449-27446015	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:27445580-27445734	ProgFib	skin:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:27443444..27445356-chr10:27445718..27447282,2	MCF-7	breast:
2	chr10:27442535..27445982-chr10:27528407..27534290,13	K562	blood:
3	chr10:27425252..27427965-chr10:27444886..27446851,2	MCF-7	breast:
4	chr10:27442176..27446829-chr10:27524472..27534671,19	K562	blood:
5	chr10:27441114..27446089-chr10:27527560..27532728,23	MCF-7	breast:
6	chr10:27445313..27446905-chr10:27529992..27532345,2	MCF-7	breast:

No data

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

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10443987	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741125	0.92[ASN][1000 genomes]
rs10741128	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10764662	0.92[ASN][1000 genomes]
rs10764672	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10829165	0.92[ASN][1000 genomes]
rs10829190	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10829195	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1085782	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015463	0.92[ASN][1000 genomes]
rs12411584	0.92[ASN][1000 genomes]
rs12413716	0.92[ASN][1000 genomes]
rs12415615	0.92[ASN][1000 genomes]
rs16927573	0.92[ASN][1000 genomes]
rs1753413	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1753415	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1755399	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775350	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974366	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149413	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368197	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463941	0.83[ASN][1000 genomes]
rs41279940	0.83[ASN][1000 genomes]
rs4747584	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749224	0.92[ASN][1000 genomes]
rs4749228	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749230	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749233	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6415983	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6482587	0.92[ASN][1000 genomes]
rs6482588	0.92[ASN][1000 genomes]
rs6482593	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482594	0.81[AMR][1000 genomes]
rs6482595	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482598	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7079807	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7087033	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7096505	0.92[ASN][1000 genomes]
rs788210	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788211	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788220	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788237	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902540	0.92[ASN][1000 genomes]
rs7907988	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7910168	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7911024	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7915902	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918232	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1253045	MASTL	cis	Nerve Tibial	GTEx
rs1253045	MASTL	cis	Muscle Skeletal	GTEx
rs1253045	MASTL	cis	Whole Blood	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	chr10:27441600-27446200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr10:27441800-27446000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr10:27441800-27446200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr10:27442000-27445800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:27442000-27445800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:27442000-27445800	Active TSS	A549	lung
14	chr10:27442000-27446000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:27442000-27446000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:27442000-27446000	Active TSS	Muscle Satellite Cultured Cells	--
17	chr10:27442000-27446000	Active TSS	NHDF-Ad	bronchial
18	chr10:27442000-27446200	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr10:27442000-27446200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr10:27442000-27446200	Active TSS	GM12878-XiMat	blood
21	chr10:27442000-27446200	Active TSS	Hela-S3	cervix
22	chr10:27442200-27445800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:27442200-27446000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:27442200-27446000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:27442200-27446000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:27442200-27446000	Active TSS	Thymus	Thymus
27	chr10:27442200-27446000	Active TSS	HMEC	breast
28	chr10:27442200-27446000	Active TSS	K562	blood
29	chr10:27442200-27446000	Active TSS	NH-A	brain
30	chr10:27442200-27446000	Active TSS	Osteobl	bone
31	chr10:27442200-27446200	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr10:27442600-27445800	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr10:27444800-27445800	Active TSS	Duodenum Mucosa	Duodenum
34	chr10:27444800-27445800	Active TSS	HUVEC	blood vessel
35	chr10:27444800-27446400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:27445000-27445800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:27445000-27447400	Enhancers	Stomach Mucosa	stomach
38	chr10:27445000-27454200	Weak transcription	Brain Substantia Nigra	brain
39	chr10:27445000-27486200	Weak transcription	Fetal Heart	heart
40	chr10:27445200-27445800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr10:27445200-27445800	Weak transcription	Small Intestine	intestine
42	chr10:27445200-27445800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr10:27445200-27447600	Weak transcription	Lung	lung
44	chr10:27445200-27453000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr10:27445200-27454200	Weak transcription	Ovary	ovary
46	chr10:27445200-27454400	Weak transcription	Gastric	stomach
47	chr10:27445400-27445800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr10:27445400-27445800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr10:27445400-27445800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr10:27445400-27445800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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