Variant report

Variant	rs1974366
Chromosome Location	chr10:27472275-27472276
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27471397..27474694-chr10:27478152..27480679,3	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:50)

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	0.94[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	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10829195	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1085782	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]
rs1253045	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927573	0.92[ASN][1000 genomes]
rs1753413	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	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149413	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]
rs4749221	0.82[EUR][1000 genomes]
rs4749224	0.92[ASN][1000 genomes]
rs4749228	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749230	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749233	1.00[AMR][1000 genomes];0.99[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	0.94[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	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7096505	0.92[ASN][1000 genomes]
rs788210	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788211	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788220	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788237	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902540	0.92[ASN][1000 genomes]
rs7907988	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7910168	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7911024	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7915902	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918232	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];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	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
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats 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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1974366	MASTL	cis	Muscle Skeletal	GTEx
rs1974366	MASTL	cis	Esophagus Muscularis	GTEx
rs1974366	MASTL	cis	Nerve Tibial	GTEx
rs1974366	MASTL	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27445000-27486200	Weak transcription	Fetal Heart	heart
2	chr10:27445400-27490800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:27446400-27476200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr10:27446400-27476400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:27446400-27490800	Weak transcription	Fetal Brain Male	brain
6	chr10:27446400-27499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr10:27446400-27508400	Weak transcription	Small Intestine	intestine
8	chr10:27446600-27476000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr10:27446600-27477200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:27447000-27476600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr10:27447000-27477000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:27447000-27477800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr10:27447200-27476200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr10:27447200-27476600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:27447200-27478000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr10:27447200-27478200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:27447400-27476600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:27447400-27477200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:27447400-27478200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr10:27448200-27476000	Strong transcription	Dnd41	blood
21	chr10:27449400-27472800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr10:27449600-27487200	Weak transcription	Colon Smooth Muscle	Colon
23	chr10:27453000-27487000	Weak transcription	Spleen	Spleen
24	chr10:27454800-27473000	Weak transcription	Brain Anterior Caudate	brain
25	chr10:27454800-27473800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr10:27454800-27481200	Weak transcription	Brain Substantia Nigra	brain
27	chr10:27454800-27487000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr10:27455000-27478400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:27455000-27494600	Weak transcription	Aorta	Aorta
30	chr10:27455000-27495200	Weak transcription	Right Ventricle	heart
31	chr10:27455200-27472600	Weak transcription	Brain Hippocampus Middle	brain
32	chr10:27455200-27473600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:27455200-27475000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr10:27455400-27492200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr10:27455600-27494600	Weak transcription	Pancreas	Pancrea
36	chr10:27455800-27485200	Weak transcription	Colonic Mucosa	Colon
37	chr10:27456200-27472800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr10:27456200-27473800	Weak transcription	Ovary	ovary
39	chr10:27456200-27484200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr10:27456200-27484800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr10:27456200-27490800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr10:27456200-27496800	Weak transcription	Esophagus	oesophagus
43	chr10:27456800-27487000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr10:27457000-27475200	Weak transcription	Hela-S3	cervix
45	chr10:27457400-27473200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr10:27457400-27481400	Weak transcription	NHLF	lung
47	chr10:27457600-27485200	Weak transcription	Brain Angular Gyrus	brain
48	chr10:27459000-27484400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr10:27459200-27489800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr10:27459400-27478200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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