Variant report

Variant	rs12259472
Chromosome Location	chr10:27387228-27387229
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10764673	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10764675	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10829183	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10829185	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10829191	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10829192	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10829193	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10829194	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11015529	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11015530	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11015532	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11015536	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11015538	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11015542	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11015548	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11015553	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11015554	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11015555	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11015556	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11015558	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11015559	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11015560	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11015564	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11015565	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11015566	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11015571	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11813670	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12255977	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12571792	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12572344	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12766193	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12768114	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12769335	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12784464	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2274634	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2274635	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2274743	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2275752	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2297143	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2297145	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2297151	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2297152	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2368217	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3737054	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3780921	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3780922	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3781100	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3932559	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4747585	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4749225	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4749226	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55741077	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55955460	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67177346	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67425403	0.90[AMR][1000 genomes]
rs7073381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7075448	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7083768	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7086311	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7086820	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7896012	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7907492	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7909444	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7910396	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7910688	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7914630	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7921222	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7921980	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9651378	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9971193	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9971335	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][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	esv3364452	chr10:27385286-27395686	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv3369347	chr10:27385331-27395478	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12259472	MASTL	cis	lung	GTEx
rs12259472	MASTL	cis	Skin Sun Exposed Lower leg	GTEx
rs12259472	MASTL	cis	Thyroid	GTEx
rs12259472	YME1L1	Cis_1M	lymphoblastoid	RTeQTL
rs12259472	LINC00202-1	cis	Nerve Tibial	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27283200-27388400	Weak transcription	Psoas Muscle	Psoas
2	chr10:27291600-27388000	Weak transcription	Small Intestine	intestine
3	chr10:27313200-27388200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr10:27313200-27388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:27313400-27388400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:27314600-27388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:27323400-27388600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:27326800-27388200	Weak transcription	Brain Substantia Nigra	brain
9	chr10:27328000-27388200	Weak transcription	K562	blood
10	chr10:27350200-27387800	Weak transcription	HMEC	breast
11	chr10:27358600-27388400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr10:27361600-27388200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr10:27362200-27388400	Weak transcription	Colonic Mucosa	Colon
14	chr10:27362400-27388000	Weak transcription	Right Ventricle	heart
15	chr10:27362400-27388200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr10:27362400-27388400	Weak transcription	Pancreas	Pancrea
17	chr10:27362600-27388400	Weak transcription	Esophagus	oesophagus
18	chr10:27362600-27388400	Weak transcription	Spleen	Spleen
19	chr10:27362600-27388800	Weak transcription	Gastric	stomach
20	chr10:27362800-27388600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr10:27365000-27388000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr10:27366600-27388000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr10:27366600-27388600	Weak transcription	Fetal Kidney	kidney
24	chr10:27367400-27388200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr10:27367600-27388400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr10:27367800-27387800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr10:27369800-27388200	Weak transcription	NHDF-Ad	bronchial
28	chr10:27370000-27388600	Weak transcription	Aorta	Aorta
29	chr10:27377200-27388200	Weak transcription	NHLF	lung
30	chr10:27378000-27387800	Weak transcription	Brain Hippocampus Middle	brain
31	chr10:27378000-27388400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr10:27378200-27387800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr10:27378200-27388000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr10:27378200-27388000	Weak transcription	Fetal Brain Male	brain
35	chr10:27378200-27388200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr10:27378200-27388400	Weak transcription	Primary B cells from cord blood	blood
37	chr10:27378200-27388400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr10:27378400-27387800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr10:27378400-27387800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr10:27378400-27387800	Weak transcription	HepG2	liver
41	chr10:27378600-27388000	Weak transcription	Thymus	Thymus
42	chr10:27378600-27388200	Weak transcription	HUVEC	blood vessel
43	chr10:27378800-27388000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr10:27378800-27388000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:27378800-27388000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr10:27378800-27388600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr10:27378800-27388800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:27378800-27388800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr10:27379000-27388400	Weak transcription	Fetal Thymus	thymus
50	chr10:27379200-27387800	Weak transcription	Stomach Smooth Muscle	stomach

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