Variant report

Variant	rs1775350
Chromosome Location	chr10:27441973-27441974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr10:27441951-27442115	K562	blood:	n/a	n/a
2	CHD1	chr10:27441735-27445646	IMR90	lung:	n/a	n/a
3	POLR2A	chr10:27441899-27442243	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:27441467-27445416	K562	blood:	n/a	n/a
5	POLR2A	chr10:27441919-27442187	HepG2	liver:	n/a	n/a
6	POLR2A	chr10:27441880-27445789	IMR90	lung:	n/a	n/a
7	POLR2A	chr10:27441390-27442169	GM12878	blood:	n/a	n/a
8	CHD1	chr10:27441859-27444940	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:27426913..27428893-chr10:27439764..27442698,2	MCF-7	breast:
2	chr10:27441850..27444956-chr10:27527496..27532549,10	MCF-7	breast:
3	chr10:27422874..27425974-chr10:27441725..27444427,3	K562	blood:
4	chr10:27441114..27446089-chr10:27527560..27532728,23	MCF-7	breast:

No data

Variant related genes	Relation type
MASTL	TF binding region
ENSG00000136758	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000262412	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs10443987	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741125	0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.92[ASN][1000 genomes]
rs10741128	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10764662	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10764672	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10829164	1.00[JPT][hapmap]
rs10829165	0.92[ASN][1000 genomes]
rs10829190	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10829195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1085782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015463	1.00[JPT][hapmap];0.85[MEX][hapmap];0.92[ASN][1000 genomes]
rs11812283	1.00[JPT][hapmap]
rs12411584	1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs12413716	1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs12415615	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1253045	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916444	1.00[JPT][hapmap]
rs16927573	1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs1753413	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1753415	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1755399	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974366	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149413	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368197	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463941	0.83[ASN][1000 genomes]
rs41279940	0.83[ASN][1000 genomes]
rs4747584	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4747592	1.00[JPT][hapmap]
rs4747594	1.00[JPT][hapmap]
rs4749217	1.00[JPT][hapmap]
rs4749221	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4749224	0.92[ASN][1000 genomes]
rs4749228	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749230	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749233	1.00[CHB][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6415983	0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6482586	1.00[YRI][hapmap]
rs6482587	0.92[ASN][1000 genomes]
rs6482588	0.92[ASN][1000 genomes]
rs6482593	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482594	0.88[AMR][1000 genomes]
rs6482595	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7079807	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7087033	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7096505	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs788210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788211	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902540	0.81[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7907988	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7910168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7911024	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7915902	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918232	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918793	1.00[JPT][hapmap]
rs7919198	1.00[JPT][hapmap]
rs9833	0.87[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1775350	MASTL	cis	Muscle Skeletal	GTEx
rs1775350	ACBD5	cis	cerebellum	SCAN
rs1775350	MPP7	cis	cerebellum	SCAN
rs1775350	MASTL	cis	cerebellum	SCAN
rs1775350	MASTL	cis	Whole Blood	GTEx
rs1775350	MASTL	cis	Esophagus Muscularis	GTEx
rs1775350	MASTL	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27390000-27442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:27431800-27442000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:27435600-27442400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:27437400-27442600	Weak transcription	Gastric	stomach
5	chr10:27437400-27442800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:27438000-27442000	Weak transcription	Lung	lung
7	chr10:27438000-27442600	Weak transcription	Pancreas	Pancrea
8	chr10:27438600-27442200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:27438600-27442600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:27438600-27442600	Weak transcription	Esophagus	oesophagus
11	chr10:27438800-27442400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr10:27438800-27442400	Weak transcription	Placenta	Placenta
13	chr10:27439200-27442200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr10:27440200-27442000	Weak transcription	Left Ventricle	heart
15	chr10:27440600-27442400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:27440800-27442400	Flanking Active TSS	Dnd41	blood
17	chr10:27441000-27442200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:27441200-27442000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:27441200-27442000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr10:27441200-27442000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr10:27441200-27442000	Flanking Active TSS	A549	lung
22	chr10:27441200-27442000	Flanking Active TSS	GM12878-XiMat	blood
23	chr10:27441200-27442000	Flanking Active TSS	Hela-S3	cervix
24	chr10:27441200-27442000	Flanking Active TSS	NHDF-Ad	bronchial
25	chr10:27441200-27442000	Flanking Active TSS	NHLF	lung
26	chr10:27441200-27442200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr10:27441200-27442200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr10:27441200-27442200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:27441200-27442200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:27441200-27442200	Flanking Active TSS	Fetal Lung	lung
31	chr10:27441200-27442200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr10:27441200-27442200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr10:27441200-27442200	Flanking Active TSS	HMEC	breast
34	chr10:27441200-27442200	Flanking Active TSS	NH-A	brain
35	chr10:27441200-27442400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr10:27441200-27442400	Enhancers	Primary B cells from peripheral blood	blood
37	chr10:27441200-27442400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr10:27441200-27442400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr10:27441200-27442400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr10:27441200-27442400	Flanking Active TSS	HUVEC	blood vessel
41	chr10:27441200-27442600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr10:27441200-27442600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr10:27441200-27443000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr10:27441200-27445800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr10:27441200-27446200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr10:27441200-27446200	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr10:27441200-27446200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr10:27441200-27446400	Active TSS	H1 Cell Line	embryonic stem cell
49	chr10:27441200-27446400	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr10:27441200-27446400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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