Variant report

Variant	rs10764688
Chromosome Location	chr10:27486669-27486670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27485876..27489874-chr10:27530117..27533444,3	MCF-7	breast:
2	chr10:27486222..27488515-chr10:27491807..27494429,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107897	Chromatin interaction
ENSG00000262412	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10430596	0.85[ASN][1000 genomes]
rs10764678	0.82[ASN][1000 genomes]
rs10829183	0.86[ASN][1000 genomes]
rs10829194	0.90[ASN][1000 genomes]
rs10829211	0.83[ASN][1000 genomes]
rs11015536	0.90[ASN][1000 genomes]
rs11015541	0.87[ASN][1000 genomes]
rs11015553	0.90[ASN][1000 genomes]
rs11015599	0.90[ASN][1000 genomes]
rs11015604	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11015613	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11598615	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12255977	0.90[ASN][1000 genomes]
rs1557167	0.85[ASN][1000 genomes]
rs1775352	0.80[ASN][1000 genomes]
rs1974367	0.85[ASN][1000 genomes]
rs2026015	0.80[ASN][1000 genomes]
rs2275752	0.90[ASN][1000 genomes]
rs2780666	0.80[ASN][1000 genomes]
rs2780678	0.81[ASN][1000 genomes]
rs2800403	0.81[ASN][1000 genomes]
rs2800404	0.81[ASN][1000 genomes]
rs2800406	0.81[ASN][1000 genomes]
rs35805599	0.89[ASN][1000 genomes]
rs3737054	0.81[ASN][1000 genomes]
rs4747589	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4749236	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4749238	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs55955460	0.90[ASN][1000 genomes]
rs6482602	0.83[ASN][1000 genomes]
rs6482603	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67177346	0.90[ASN][1000 genomes]
rs7074295	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7075448	0.87[ASN][1000 genomes]
rs7080173	0.85[ASN][1000 genomes]
rs7080568	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7099019	0.86[ASN][1000 genomes]
rs7902126	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7903590	0.94[ASN][1000 genomes]
rs7907492	0.90[ASN][1000 genomes]
rs7909135	0.85[ASN][1000 genomes]
rs7909444	0.90[ASN][1000 genomes]
rs7910396	0.90[ASN][1000 genomes]
rs7921222	0.90[ASN][1000 genomes]
rs7922972	0.84[ASN][1000 genomes]
rs882475	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv894980	chr10:27477285-27526531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs10764688	MASTL	cis	lung	GTEx
rs10764688	LINC00202-1	cis	Nerve Tibial	GTEx
rs10764688	MASTL	cis	Thyroid	GTEx
rs10764688	MASTL	cis	Whole Blood	GTEx
rs10764688	MASTL	cis	Skin Sun Exposed Lower leg	GTEx
rs10764688	MASTL	cis	Adipose Subcutaneous	GTEx
rs10764688	YME1L1	Cis_1M	lymphoblastoid	RTeQTL
rs10764688	MASTL	cis	Artery Tibial	GTEx
rs10764688	MASTL	cis	Muscle Skeletal	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27445400-27490800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:27446400-27490800	Weak transcription	Fetal Brain Male	brain
3	chr10:27446400-27499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:27446400-27508400	Weak transcription	Small Intestine	intestine
5	chr10:27449600-27487200	Weak transcription	Colon Smooth Muscle	Colon
6	chr10:27453000-27487000	Weak transcription	Spleen	Spleen
7	chr10:27454800-27487000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr10:27455000-27494600	Weak transcription	Aorta	Aorta
9	chr10:27455000-27495200	Weak transcription	Right Ventricle	heart
10	chr10:27455400-27492200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr10:27455600-27494600	Weak transcription	Pancreas	Pancrea
12	chr10:27456200-27490800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:27456200-27496800	Weak transcription	Esophagus	oesophagus
14	chr10:27456800-27487000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr10:27459200-27489800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr10:27464800-27492800	Weak transcription	HSMMtube	muscle
17	chr10:27466800-27488400	Weak transcription	HepG2	liver
18	chr10:27469800-27490600	Weak transcription	Gastric	stomach
19	chr10:27473200-27487600	Weak transcription	Lung	lung
20	chr10:27473200-27524200	Weak transcription	Stomach Mucosa	stomach
21	chr10:27474200-27487200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr10:27474200-27489600	Weak transcription	Ovary	ovary
23	chr10:27474200-27490600	Weak transcription	Brain Anterior Caudate	brain
24	chr10:27474200-27490800	Weak transcription	Fetal Kidney	kidney
25	chr10:27474200-27494400	Weak transcription	NHEK	skin
26	chr10:27474200-27512000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr10:27474400-27492800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr10:27475600-27488000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr10:27475600-27490800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr10:27475600-27528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr10:27476000-27487200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr10:27476000-27487400	Weak transcription	Brain Hippocampus Middle	brain
33	chr10:27476000-27488000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr10:27476000-27488200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr10:27476000-27488400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr10:27476000-27490600	Weak transcription	Fetal Lung	lung
37	chr10:27476000-27490800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr10:27476000-27492800	Weak transcription	Hela-S3	cervix
39	chr10:27476200-27492000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr10:27476200-27493000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr10:27476200-27528600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr10:27476400-27487200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:27476400-27499000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr10:27476600-27488200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:27476600-27492800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr10:27476600-27492800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr10:27476600-27494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr10:27477000-27496400	Weak transcription	HSMM	muscle
49	chr10:27477200-27490600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr10:27478000-27493000	Weak transcription	K562	blood

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