Variant report

Variant	rs35805599
Chromosome Location	chr10:27482906-27482907
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10430596	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10741130	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10764669	0.81[EUR][1000 genomes]
rs10764676	0.85[EUR][1000 genomes]
rs10764678	0.93[ASN][1000 genomes]
rs10764683	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10764684	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10764686	0.91[EUR][1000 genomes]
rs10764688	0.89[ASN][1000 genomes]
rs10829173	0.81[EUR][1000 genomes]
rs10829174	0.81[EUR][1000 genomes]
rs10829176	0.82[EUR][1000 genomes]
rs10829180	0.83[EUR][1000 genomes]
rs10829181	0.83[EUR][1000 genomes]
rs10829183	0.85[ASN][1000 genomes]
rs10829188	0.81[EUR][1000 genomes]
rs10829194	0.89[ASN][1000 genomes]
rs10829197	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10829200	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10829201	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10829202	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10829208	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11015522	0.83[EUR][1000 genomes]
rs11015536	0.89[ASN][1000 genomes]
rs11015541	0.86[ASN][1000 genomes]
rs11015549	0.85[EUR][1000 genomes]
rs11015553	0.89[ASN][1000 genomes]
rs11015563	0.86[EUR][1000 genomes]
rs11015570	0.86[EUR][1000 genomes]
rs11015575	0.86[EUR][1000 genomes]
rs11015586	0.86[EUR][1000 genomes]
rs11015588	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11015589	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11015590	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11015599	0.89[ASN][1000 genomes]
rs11015600	0.94[EUR][1000 genomes]
rs11015604	0.86[ASN][1000 genomes]
rs11597298	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11598615	0.86[ASN][1000 genomes]
rs12255977	0.89[ASN][1000 genomes]
rs12265358	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12762457	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1338	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1360007	0.86[EUR][1000 genomes]
rs1557167	0.96[ASN][1000 genomes]
rs1557168	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1557169	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1557170	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1780091	0.83[AMR][1000 genomes]
rs1974367	0.96[ASN][1000 genomes]
rs1981296	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2185808	0.82[EUR][1000 genomes]
rs2243922	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2275752	0.89[ASN][1000 genomes]
rs2297147	0.83[EUR][1000 genomes]
rs2780667	0.83[AMR][1000 genomes]
rs2780681	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2887190	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3780920	0.85[EUR][1000 genomes]
rs3780926	0.86[EUR][1000 genomes]
rs3824593	0.85[EUR][1000 genomes]
rs4018760	0.83[EUR][1000 genomes]
rs4142123	0.85[EUR][1000 genomes]
rs4747588	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4747589	0.88[ASN][1000 genomes]
rs4749236	0.88[ASN][1000 genomes]
rs4749238	0.86[ASN][1000 genomes]
rs55955460	0.89[ASN][1000 genomes]
rs6482596	0.85[EUR][1000 genomes]
rs6482600	0.90[EUR][1000 genomes]
rs6482602	0.94[ASN][1000 genomes]
rs6482603	0.89[ASN][1000 genomes]
rs67177346	0.89[ASN][1000 genomes]
rs7067696	0.86[EUR][1000 genomes]
rs7068375	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7069942	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7070117	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7074295	0.89[ASN][1000 genomes]
rs7075448	0.86[ASN][1000 genomes]
rs7079282	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7079792	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7079885	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7080173	0.96[ASN][1000 genomes]
rs7080568	0.89[ASN][1000 genomes]
rs7086553	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7091128	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7091723	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7099019	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7477806	0.85[EUR][1000 genomes]
rs7894187	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7897241	0.90[EUR][1000 genomes]
rs7900024	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7901653	0.86[EUR][1000 genomes]
rs7901976	0.85[EUR][1000 genomes]
rs7902126	0.86[ASN][1000 genomes]
rs7903590	0.87[ASN][1000 genomes]
rs7907492	0.89[ASN][1000 genomes]
rs7909135	0.96[ASN][1000 genomes]
rs7909444	0.89[ASN][1000 genomes]
rs7909684	0.82[EUR][1000 genomes]
rs7910367	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7910396	0.89[ASN][1000 genomes]
rs7918395	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7921222	0.89[ASN][1000 genomes]
rs7922972	0.95[ASN][1000 genomes]
rs7924231	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs882474	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs882475	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9299837	0.87[AMR][1000 genomes];0.90[EUR][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:11)

SNP	Gene	Cis/trans	Tissue	Source
rs35805599	MASTL	cis	Stomach	GTEx
rs35805599	MASTL	cis	lung	GTEx
rs35805599	YME1L1	Cis_1M	lymphoblastoid	RTeQTL
rs35805599	MASTL	cis	Esophagus Muscularis	GTEx
rs35805599	MASTL	cis	Thyroid	GTEx
rs35805599	MASTL	cis	Whole Blood	GTEx
rs35805599	MASTL	cis	Adipose Subcutaneous	GTEx
rs35805599	MASTL	cis	Skin Sun Exposed Lower leg	GTEx
rs35805599	MASTL	cis	Muscle Skeletal	GTEx
rs35805599	MASTL	cis	Nerve Tibial	GTEx
rs35805599	MASTL	cis	Artery Tibial	GTEx

Chromatin state (count:121 , 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	chr10:27446400-27490800	Weak transcription	Fetal Brain Male	brain
4	chr10:27446400-27499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:27446400-27508400	Weak transcription	Small Intestine	intestine
6	chr10:27449600-27487200	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:27453000-27487000	Weak transcription	Spleen	Spleen
8	chr10:27454800-27487000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:27455000-27494600	Weak transcription	Aorta	Aorta
10	chr10:27455000-27495200	Weak transcription	Right Ventricle	heart
11	chr10:27455400-27492200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr10:27455600-27494600	Weak transcription	Pancreas	Pancrea
13	chr10:27455800-27485200	Weak transcription	Colonic Mucosa	Colon
14	chr10:27456200-27484200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr10:27456200-27484800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr10:27456200-27490800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:27456200-27496800	Weak transcription	Esophagus	oesophagus
18	chr10:27456800-27487000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr10:27457600-27485200	Weak transcription	Brain Angular Gyrus	brain
20	chr10:27459000-27484400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr10:27459200-27489800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr10:27464800-27492800	Weak transcription	HSMMtube	muscle
23	chr10:27466600-27484600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr10:27466600-27484800	Weak transcription	Left Ventricle	heart
25	chr10:27466800-27485200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:27466800-27488400	Weak transcription	HepG2	liver
27	chr10:27467000-27485000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr10:27467200-27485000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr10:27469800-27490600	Weak transcription	Gastric	stomach
30	chr10:27470000-27485200	Weak transcription	Fetal Brain Female	brain
31	chr10:27473200-27487600	Weak transcription	Lung	lung
32	chr10:27473200-27524200	Weak transcription	Stomach Mucosa	stomach
33	chr10:27473400-27484200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr10:27473600-27484800	Weak transcription	Fetal Intestine Large	intestine
35	chr10:27474200-27487200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr10:27474200-27489600	Weak transcription	Ovary	ovary
37	chr10:27474200-27490600	Weak transcription	Brain Anterior Caudate	brain
38	chr10:27474200-27490800	Weak transcription	Fetal Kidney	kidney
39	chr10:27474200-27494400	Weak transcription	NHEK	skin
40	chr10:27474200-27512000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr10:27474400-27485200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr10:27474400-27486600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr10:27474400-27492800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr10:27475400-27486400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr10:27475600-27484000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr10:27475600-27484000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr10:27475600-27484800	Weak transcription	Primary T cells from cord blood	blood
48	chr10:27475600-27488000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr10:27475600-27490800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr10:27475600-27528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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