Variant report

Variant	rs4747588
Chromosome Location	chr10:27489803-27489804
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:

Variant related genes	Relation type
ENSG00000262412	Chromatin interaction
ENSG00000107897	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10430596	0.84[AMR][1000 genomes]
rs10458707	0.85[CHB][hapmap]
rs10741130	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10764664	0.85[CHB][hapmap]
rs10764665	0.85[CHB][hapmap]
rs10764667	0.85[CHB][hapmap]
rs10764669	0.90[CHB][hapmap]
rs10764683	0.86[ASN][1000 genomes]
rs10764684	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10764686	0.84[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10764690	0.89[CHB][hapmap]
rs10829162	0.81[CHB][hapmap]
rs10829173	0.90[CHB][hapmap]
rs10829174	0.85[CHB][hapmap]
rs10829197	0.84[ASN][1000 genomes]
rs10829201	0.90[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs10829202	0.86[ASN][1000 genomes]
rs10829208	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10829212	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10829219	0.85[CHB][hapmap]
rs11015522	0.85[CHB][hapmap]
rs11015570	0.85[CHB][hapmap]
rs11015575	0.83[ASN][1000 genomes]
rs11015588	0.85[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs11015589	0.84[ASN][1000 genomes]
rs11015590	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11015600	0.85[CHB][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1144510	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1144511	0.89[EUR][1000 genomes]
rs1148167	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11597298	0.86[ASN][1000 genomes]
rs12265358	0.86[ASN][1000 genomes]
rs12572344	0.80[CHB][hapmap]
rs12762457	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1328602	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1338	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1411283	0.85[CHB][hapmap]
rs1557168	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1557169	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1557170	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1780091	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1981296	0.82[YRI][hapmap]
rs2040038	0.89[EUR][1000 genomes]
rs2183334	0.85[CHB][hapmap]
rs2243922	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2274741	0.81[CHB][hapmap]
rs2770202	0.95[EUR][1000 genomes]
rs2780667	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2780672	0.94[EUR][1000 genomes]
rs2780674	0.94[EUR][1000 genomes]
rs2780675	0.81[EUR][1000 genomes]
rs2780681	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2800392	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs35805599	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3737055	0.85[CHB][hapmap]
rs3780920	0.85[CHB][hapmap]
rs3780926	0.85[CHB][hapmap]
rs3824593	0.90[CHB][hapmap]
rs3904244	0.81[CHB][hapmap]
rs4749213	0.81[CHB][hapmap]
rs4749240	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61849039	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6482596	0.85[CHB][hapmap]
rs6482600	0.85[CHB][hapmap]
rs6482601	0.85[CHB][hapmap]
rs7067696	0.85[CHB][hapmap]
rs7068375	0.85[CHB][hapmap];0.82[YRI][hapmap]
rs7079282	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7079792	0.85[CHB][hapmap]
rs7086553	0.85[CHB][hapmap];0.84[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7088171	0.81[CHB][hapmap]
rs7091128	0.85[CHB][hapmap]
rs7091723	0.85[CHB][hapmap]
rs7097009	0.85[CHB][hapmap]
rs7099019	0.84[AMR][1000 genomes]
rs7897241	0.86[ASN][1000 genomes]
rs7900024	0.85[CHB][hapmap]
rs7901653	0.85[CHB][hapmap]
rs7910430	0.85[CHB][hapmap]
rs7919523	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7919621	0.85[CHB][hapmap]
rs7924231	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs882474	0.85[CHB][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs882475	0.80[AMR][1000 genomes]
rs9299837	0.85[CHB][hapmap]

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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4747588	MASTL	cis	Adipose Subcutaneous	GTEx
rs4747588	YME1L1	Cis_1M	lymphoblastoid	RTeQTL
rs4747588	MASTL	cis	Esophagus Muscularis	GTEx
rs4747588	MASTL	cis	Thyroid	GTEx
rs4747588	MASTL	cis	Nerve Tibial	GTEx
rs4747588	MASTL	cis	lung	GTEx
rs4747588	MASTL	cis	Skin Sun Exposed Lower leg	GTEx
rs4747588	MASTL	cis	Muscle Skeletal	GTEx
rs4747588	MASTL	cis	Whole Blood	GTEx
rs4747588	MASTL	cis	Artery Tibial	GTEx

Chromatin state (count:122 , 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	chr10:27455000-27494600	Weak transcription	Aorta	Aorta
6	chr10:27455000-27495200	Weak transcription	Right Ventricle	heart
7	chr10:27455400-27492200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr10:27455600-27494600	Weak transcription	Pancreas	Pancrea
9	chr10:27456200-27490800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:27456200-27496800	Weak transcription	Esophagus	oesophagus
11	chr10:27464800-27492800	Weak transcription	HSMMtube	muscle
12	chr10:27469800-27490600	Weak transcription	Gastric	stomach
13	chr10:27473200-27524200	Weak transcription	Stomach Mucosa	stomach
14	chr10:27474200-27490600	Weak transcription	Brain Anterior Caudate	brain
15	chr10:27474200-27490800	Weak transcription	Fetal Kidney	kidney
16	chr10:27474200-27494400	Weak transcription	NHEK	skin
17	chr10:27474200-27512000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr10:27474400-27492800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr10:27475600-27490800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr10:27475600-27528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr10:27476000-27490600	Weak transcription	Fetal Lung	lung
22	chr10:27476000-27490800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr10:27476000-27492800	Weak transcription	Hela-S3	cervix
24	chr10:27476200-27492000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:27476200-27493000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr10:27476200-27528600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr10:27476400-27499000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr10:27476600-27492800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr10:27476600-27492800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr10:27476600-27494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:27477000-27496400	Weak transcription	HSMM	muscle
32	chr10:27477200-27490600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:27478000-27493000	Weak transcription	K562	blood
34	chr10:27480000-27492800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr10:27481600-27492800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr10:27481600-27492800	Weak transcription	Brain Substantia Nigra	brain
37	chr10:27481600-27492800	Weak transcription	HMEC	breast
38	chr10:27481600-27527800	Weak transcription	Psoas Muscle	Psoas
39	chr10:27481800-27490400	Weak transcription	HUVEC	blood vessel
40	chr10:27481800-27491800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr10:27481800-27492800	Weak transcription	NHDF-Ad	bronchial
42	chr10:27481800-27498000	Weak transcription	NHLF	lung
43	chr10:27481800-27499200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr10:27482600-27492000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr10:27482600-27512600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr10:27483800-27512200	Strong transcription	Liver	Liver
47	chr10:27484000-27512400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr10:27484000-27512400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr10:27484000-27512400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr10:27484000-27512600	Strong transcription	Primary monocytes fromperipheralblood	blood

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