Variant report

Variant	rs4747585
Chromosome Location	chr10:27398372-27398373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27395462..27398841-chr10:27442023..27446304,5	K562	blood:
2	chr10:27390343..27392480-chr10:27398264..27400217,2	K562	blood:
3	chr10:27396389..27398722-chr10:27411007..27413191,2	K562	blood:
4	chr10:27397434..27399225-chr10:27417185..27419169,2	K562	blood:

Variant related genes	Relation type
ENSG00000120539	Chromatin interaction
ENSG00000136758	Chromatin interaction

Extended variants
information (count: 136 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10734064	0.83[ASN][1000 genomes]
rs10764664	0.80[ASN][1000 genomes]
rs10764665	0.80[ASN][1000 genomes]
rs10764667	0.81[ASN][1000 genomes]
rs10764668	0.83[ASN][1000 genomes]
rs10764669	0.83[ASN][1000 genomes]
rs10764673	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10764675	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10764676	0.88[ASN][1000 genomes]
rs10764684	0.85[ASN][1000 genomes]
rs10829163	0.81[ASN][1000 genomes]
rs10829164	0.81[ASN][1000 genomes]
rs10829167	0.81[ASN][1000 genomes]
rs10829172	0.83[ASN][1000 genomes]
rs10829173	0.83[ASN][1000 genomes]
rs10829174	0.83[ASN][1000 genomes]
rs10829176	0.84[ASN][1000 genomes]
rs10829180	0.85[ASN][1000 genomes]
rs10829181	0.85[ASN][1000 genomes]
rs10829183	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10829185	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10829188	0.87[ASN][1000 genomes]
rs10829191	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10829192	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10829193	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10829194	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10829200	0.85[ASN][1000 genomes]
rs11015461	0.81[ASN][1000 genomes]
rs11015522	0.85[ASN][1000 genomes]
rs11015529	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11015530	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11015532	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11015536	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11015538	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11015542	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11015548	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11015549	0.88[ASN][1000 genomes]
rs11015553	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11015554	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11015555	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11015556	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11015558	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11015559	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11015560	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11015563	0.88[ASN][1000 genomes]
rs11015564	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11015565	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11015566	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11015570	0.88[ASN][1000 genomes]
rs11015571	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11015586	0.85[ASN][1000 genomes]
rs11813670	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12255977	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12259472	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12571792	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12572344	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12766193	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12768114	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12769335	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12784464	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1360007	0.88[ASN][1000 genomes]
rs1981296	0.85[ASN][1000 genomes]
rs2185808	0.83[ASN][1000 genomes]
rs2274634	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2274635	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2274743	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2275752	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2297143	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2297145	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2297147	0.85[ASN][1000 genomes]
rs2297151	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2297152	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2368217	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2887190	0.85[ASN][1000 genomes]
rs34844053	0.81[ASN][1000 genomes]
rs35995872	0.81[ASN][1000 genomes]
rs3737055	0.82[ASN][1000 genomes]
rs3758403	0.85[ASN][1000 genomes]
rs3780920	0.88[ASN][1000 genomes]
rs3780921	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3780922	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3780926	0.88[ASN][1000 genomes]
rs3781100	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3824593	0.88[ASN][1000 genomes]
rs3824691	0.81[ASN][1000 genomes]
rs3904244	0.90[ASN][1000 genomes]
rs3932559	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4018760	0.86[ASN][1000 genomes]
rs4142123	0.88[ASN][1000 genomes]
rs4481929	0.80[ASN][1000 genomes]
rs4747581	0.81[ASN][1000 genomes]
rs4749225	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4749226	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55741077	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55955460	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6482596	0.88[ASN][1000 genomes]
rs6482600	0.85[ASN][1000 genomes]
rs6482601	0.85[ASN][1000 genomes]
rs67177346	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67425403	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7067696	0.88[ASN][1000 genomes]
rs7068375	0.86[ASN][1000 genomes]
rs7069942	0.86[ASN][1000 genomes]
rs7070117	0.86[ASN][1000 genomes]
rs7073381	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7075448	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7079792	0.85[ASN][1000 genomes]
rs7079885	0.85[ASN][1000 genomes]
rs7083768	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7086311	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7086820	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7091128	0.85[ASN][1000 genomes]
rs7091723	0.85[ASN][1000 genomes]
rs7477806	0.90[ASN][1000 genomes]
rs7894187	0.82[ASN][1000 genomes]
rs7896012	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7900024	0.88[ASN][1000 genomes]
rs7901653	0.88[ASN][1000 genomes]
rs7901976	0.88[ASN][1000 genomes]
rs7902690	0.90[ASN][1000 genomes]
rs7907492	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7909444	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7909684	0.83[ASN][1000 genomes]
rs7910367	0.84[ASN][1000 genomes]
rs7910396	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7910430	0.85[ASN][1000 genomes]
rs7910688	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7914630	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7918395	0.84[ASN][1000 genomes]
rs7921222	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7921980	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs882474	0.85[ASN][1000 genomes]
rs9299837	0.85[ASN][1000 genomes]
rs9651378	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9971193	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9971335	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4747585	YME1L1	Cis_1M	lymphoblastoid	RTeQTL
rs4747585	MASTL	cis	Thyroid	GTEx
rs4747585	MASTL	cis	Stomach	GTEx
rs4747585	MASTL	cis	Skin Sun Exposed Lower leg	GTEx
rs4747585	MASTL	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27389800-27399600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:27389800-27441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:27390000-27398400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr10:27390000-27398600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr10:27390000-27398800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:27390000-27399200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:27390000-27400200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:27390000-27400200	Weak transcription	HMEC	breast
9	chr10:27390000-27400600	Weak transcription	NHLF	lung
10	chr10:27390000-27401200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr10:27390000-27406400	Weak transcription	Small Intestine	intestine
12	chr10:27390000-27408000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr10:27390000-27442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:27390200-27398600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr10:27390200-27398600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr10:27390200-27399400	Weak transcription	HUVEC	blood vessel
17	chr10:27390200-27400000	Weak transcription	Lung	lung
18	chr10:27390200-27400400	Weak transcription	K562	blood
19	chr10:27390200-27401000	Weak transcription	Hela-S3	cervix
20	chr10:27390200-27401200	Weak transcription	Psoas Muscle	Psoas
21	chr10:27390200-27435000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr10:27390400-27398600	Weak transcription	Brain Anterior Caudate	brain
23	chr10:27390400-27398600	Weak transcription	Brain Substantia Nigra	brain
24	chr10:27390400-27398600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr10:27390400-27398800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:27390400-27399200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr10:27390400-27399800	Weak transcription	Pancreas	Pancrea
28	chr10:27390400-27399800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr10:27390400-27400000	Weak transcription	Aorta	Aorta
30	chr10:27390400-27400000	Weak transcription	Colonic Mucosa	Colon
31	chr10:27390400-27400200	Weak transcription	Brain Hippocampus Middle	brain
32	chr10:27390400-27400600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr10:27390400-27400600	Weak transcription	Colon Smooth Muscle	Colon
34	chr10:27390400-27400600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr10:27390400-27400600	Weak transcription	NHEK	skin
36	chr10:27390400-27400800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr10:27390400-27400800	Weak transcription	Primary B cells from cord blood	blood
38	chr10:27390400-27401400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr10:27390400-27401400	Weak transcription	Esophagus	oesophagus
40	chr10:27390400-27401400	Weak transcription	Gastric	stomach
41	chr10:27390400-27401400	Weak transcription	Right Ventricle	heart
42	chr10:27390400-27417600	Weak transcription	Stomach Mucosa	stomach
43	chr10:27390600-27399000	Weak transcription	Placenta	Placenta
44	chr10:27390600-27399600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr10:27390600-27400200	Weak transcription	Fetal Brain Male	brain
46	chr10:27390600-27400600	Weak transcription	HepG2	liver
47	chr10:27390600-27400800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr10:27391200-27398600	Weak transcription	GM12878-XiMat	blood
49	chr10:27393800-27438600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:27394000-27426600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links