Variant report

Variant	rs9971335
Chromosome Location	chr10:27395540-27395541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27395462..27398841-chr10:27442023..27446304,5	K562	blood:

Variant related genes	Relation type
ENSG00000136758	Chromatin interaction
ENSG00000120539	Chromatin interaction

Extended variants
information (count: 137 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10734064	0.84[ASN][1000 genomes]
rs10764664	0.80[ASN][1000 genomes]
rs10764665	0.80[ASN][1000 genomes]
rs10764667	0.82[ASN][1000 genomes]
rs10764668	0.84[ASN][1000 genomes]
rs10764669	0.83[ASN][1000 genomes]
rs10764673	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10764675	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10764676	0.85[ASN][1000 genomes]
rs10764684	0.82[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	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10829185	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10829188	0.84[ASN][1000 genomes]
rs10829191	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10829192	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10829193	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10829194	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10829200	0.82[ASN][1000 genomes]
rs11015461	0.81[ASN][1000 genomes]
rs11015522	0.85[ASN][1000 genomes]
rs11015529	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11015530	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11015532	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11015536	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11015538	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11015542	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11015548	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11015549	0.85[ASN][1000 genomes]
rs11015553	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11015554	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11015555	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11015556	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11015558	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11015559	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11015560	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11015563	0.85[ASN][1000 genomes]
rs11015564	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11015565	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11015566	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11015570	0.85[ASN][1000 genomes]
rs11015571	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11015586	0.82[ASN][1000 genomes]
rs11813670	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12255977	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12259472	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12571792	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12572344	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12766193	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12768114	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12769335	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12784464	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1360007	0.85[ASN][1000 genomes]
rs1981296	0.82[ASN][1000 genomes]
rs2185808	0.84[ASN][1000 genomes]
rs2274634	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2274635	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2274743	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2275752	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2297143	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2297145	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2297147	0.85[ASN][1000 genomes]
rs2297151	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2297152	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2368217	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2887190	0.82[ASN][1000 genomes]
rs34844053	0.81[ASN][1000 genomes]
rs35995872	0.81[ASN][1000 genomes]
rs3737054	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3737055	0.82[ASN][1000 genomes]
rs3758403	0.85[ASN][1000 genomes]
rs3780920	0.85[ASN][1000 genomes]
rs3780921	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3780922	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3780926	0.85[ASN][1000 genomes]
rs3781100	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3824593	0.85[ASN][1000 genomes]
rs3824691	0.81[ASN][1000 genomes]
rs3904244	0.90[ASN][1000 genomes]
rs3932559	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4018760	0.86[ASN][1000 genomes]
rs4142123	0.85[ASN][1000 genomes]
rs4481929	0.80[ASN][1000 genomes]
rs4747581	0.81[ASN][1000 genomes]
rs4747585	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4749225	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4749226	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55741077	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55955460	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6482596	0.85[ASN][1000 genomes]
rs6482600	0.82[ASN][1000 genomes]
rs6482601	0.82[ASN][1000 genomes]
rs67177346	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67425403	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7067696	0.85[ASN][1000 genomes]
rs7068375	0.84[ASN][1000 genomes]
rs7069942	0.84[ASN][1000 genomes]
rs7070117	0.84[ASN][1000 genomes]
rs7073381	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7075448	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7079792	0.82[ASN][1000 genomes]
rs7079885	0.82[ASN][1000 genomes]
rs7083768	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7086311	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7086820	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7091128	0.82[ASN][1000 genomes]
rs7091723	0.82[ASN][1000 genomes]
rs7477806	0.88[ASN][1000 genomes]
rs7896012	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7900024	0.85[ASN][1000 genomes]
rs7901653	0.85[ASN][1000 genomes]
rs7901976	0.85[ASN][1000 genomes]
rs7902690	0.90[ASN][1000 genomes]
rs7907492	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7909444	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7909684	0.84[ASN][1000 genomes]
rs7910367	0.82[ASN][1000 genomes]
rs7910396	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7910430	0.85[ASN][1000 genomes]
rs7910688	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7914630	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7918395	0.81[ASN][1000 genomes]
rs7921222	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7921980	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs882474	0.82[ASN][1000 genomes]
rs9299837	0.82[ASN][1000 genomes]
rs9651378	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9971193	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9971335	YME1L1	Cis_1M	lymphoblastoid	RTeQTL
rs9971335	MASTL	cis	Thyroid	GTEx
rs9971335	MASTL	cis	Stomach	GTEx
rs9971335	MASTL	cis	Skin Sun Exposed Lower leg	GTEx
rs9971335	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	chr10:27390000-27396200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:27390000-27396200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:27390000-27396600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr10:27390000-27396600	Weak transcription	Fetal Lung	lung
7	chr10:27390000-27396800	Weak transcription	Fetal Intestine Large	intestine
8	chr10:27390000-27396800	Weak transcription	Fetal Kidney	kidney
9	chr10:27390000-27396800	Weak transcription	A549	lung
10	chr10:27390000-27397000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:27390000-27398400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr10:27390000-27398600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr10:27390000-27398800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:27390000-27399200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr10:27390000-27400200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr10:27390000-27400200	Weak transcription	HMEC	breast
17	chr10:27390000-27400600	Weak transcription	NHLF	lung
18	chr10:27390000-27401200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr10:27390000-27406400	Weak transcription	Small Intestine	intestine
20	chr10:27390000-27408000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr10:27390000-27442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:27390200-27396000	Weak transcription	Fetal Muscle Leg	muscle
23	chr10:27390200-27396200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr10:27390200-27396600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr10:27390200-27396800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr10:27390200-27396800	Weak transcription	Left Ventricle	heart
27	chr10:27390200-27396800	Weak transcription	Ovary	ovary
28	chr10:27390200-27396800	Weak transcription	NH-A	brain
29	chr10:27390200-27397000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr10:27390200-27398000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr10:27390200-27398600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr10:27390200-27398600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr10:27390200-27399400	Weak transcription	HUVEC	blood vessel
34	chr10:27390200-27400000	Weak transcription	Lung	lung
35	chr10:27390200-27400400	Weak transcription	K562	blood
36	chr10:27390200-27401000	Weak transcription	Hela-S3	cervix
37	chr10:27390200-27401200	Weak transcription	Psoas Muscle	Psoas
38	chr10:27390200-27435000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr10:27390400-27396000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr10:27390400-27396200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr10:27390400-27396400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr10:27390400-27396400	Weak transcription	NHDF-Ad	bronchial
43	chr10:27390400-27396600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr10:27390400-27396600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr10:27390400-27396800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr10:27390400-27398600	Weak transcription	Brain Anterior Caudate	brain
47	chr10:27390400-27398600	Weak transcription	Brain Substantia Nigra	brain
48	chr10:27390400-27398600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr10:27390400-27398800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr10:27390400-27399200	Weak transcription	Duodenum Mucosa	Duodenum

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