Variant report

Variant	rs12255977
Chromosome Location	chr10:27419203-27419204
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27418452..27420910-chr10:27431210..27433403,2	K562	blood:
2	chr10:27417369..27419676-chr10:27420734..27423204,2	MCF-7	breast:
3	chr10:27417994..27419718-chr10:27420292..27422809,2	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10430596	0.87[ASN][1000 genomes]
rs10764673	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10764675	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10764678	0.91[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs10764688	0.90[ASN][1000 genomes]
rs10829183	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10829185	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10829191	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10829192	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10829193	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10829194	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015511	0.91[YRI][hapmap]
rs11015529	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11015530	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11015532	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11015536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015538	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11015541	0.97[ASN][1000 genomes]
rs11015542	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11015548	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11015553	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015554	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11015555	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11015556	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11015558	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11015559	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11015560	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11015564	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11015565	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11015566	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11015571	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11015599	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11015604	0.87[ASN][1000 genomes]
rs1144508	0.86[CHB][hapmap]
rs11598615	0.87[ASN][1000 genomes]
rs11813670	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12259472	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12571792	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12572344	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12766193	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12768114	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12769335	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12784464	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1557167	0.89[ASN][1000 genomes]
rs1974367	0.89[ASN][1000 genomes]
rs2026015	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs2274634	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2274635	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2274743	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2275752	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297143	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2297145	1.00[ASW][hapmap];0.88[CEU][hapmap];0.88[LWK][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2297151	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2297152	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2368217	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2800403	0.90[CHB][hapmap];0.80[CHD][hapmap];0.81[JPT][hapmap]
rs35805599	0.89[ASN][1000 genomes]
rs3737054	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3780921	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3780922	1.00[ASW][hapmap];0.94[CEU][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3781100	0.84[AMR][1000 genomes]
rs3932559	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4747585	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4747589	0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs4749226	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4749236	0.89[ASN][1000 genomes]
rs4749238	0.87[ASN][1000 genomes]
rs55741077	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55955460	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482602	0.87[ASN][1000 genomes]
rs6482603	0.90[ASN][1000 genomes]
rs67177346	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67425403	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7073381	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7074295	0.90[ASN][1000 genomes]
rs7075448	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7080173	0.89[ASN][1000 genomes]
rs7080568	0.90[ASN][1000 genomes]
rs7083768	0.88[CEU][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7086311	1.00[ASW][hapmap];0.88[CEU][hapmap];0.88[LWK][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7086820	0.84[AMR][1000 genomes]
rs7099019	0.89[ASN][1000 genomes]
rs7896012	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7902126	0.87[ASN][1000 genomes]
rs7903590	0.88[ASN][1000 genomes]
rs7907492	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7909135	0.91[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs7909444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7910396	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7910688	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7914630	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7921222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7921980	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7922972	0.89[CHB][hapmap];0.80[JPT][hapmap];0.88[ASN][1000 genomes]
rs882475	0.91[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs9651378	0.88[CEU][hapmap];0.84[AMR][1000 genomes]
rs9971193	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9971335	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs12255977	ANKRD26	cis	parietal	SCAN
rs12255977	YME1L1	Cis_1M	lymphoblastoid	RTeQTL
rs12255977	MASTL	cis	cerebellum	SCAN
rs12255977	MASTL	cis	Stomach	GTEx
rs12255977	MASTL	cis	Thyroid	GTEx
rs12255977	ACBD5	cis	cerebellum	SCAN
rs12255977	MASTL	cis	lung	GTEx
rs12255977	MASTL	cis	multi-tissue	Pritchard
rs12255977	MASTL	cis	lymphoblastoid	seeQTL
rs12255977	MASTL	cis	parietal	SCAN
rs12255977	ANKRD26	cis	cerebellum	SCAN
rs12255977	MASTL	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27389800-27441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:27390000-27442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:27390200-27435000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr10:27393800-27438600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:27394000-27426600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:27394200-27432600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:27394800-27432800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:27395400-27437800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:27396200-27425400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr10:27396200-27440600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:27396600-27425400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr10:27396800-27432000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:27397000-27425600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr10:27397600-27438600	Strong transcription	Fetal Thymus	thymus
15	chr10:27398200-27434200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:27398400-27428400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:27398400-27435200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr10:27398600-27422000	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr10:27398600-27425000	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr10:27398600-27425200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr10:27398600-27425200	Strong transcription	Fetal Intestine Large	intestine
22	chr10:27398600-27425400	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr10:27398600-27426400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr10:27398600-27427000	Strong transcription	GM12878-XiMat	blood
25	chr10:27398600-27427800	Strong transcription	Adipose Nuclei	Adipose
26	chr10:27398600-27431600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr10:27398600-27434800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr10:27398600-27434800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr10:27398600-27434800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr10:27398600-27436400	Strong transcription	Dnd41	blood
31	chr10:27398800-27425400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:27398800-27426000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:27398800-27427600	Strong transcription	Fetal Lung	lung
34	chr10:27398800-27438200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr10:27398800-27438200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr10:27399000-27426400	Strong transcription	Osteobl	bone
37	chr10:27399000-27426800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr10:27399000-27431400	Strong transcription	Placenta	Placenta
39	chr10:27399200-27424800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr10:27399200-27425400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr10:27399600-27435200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:27399600-27438400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr10:27399800-27438600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:27400000-27426000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr10:27400400-27438400	Strong transcription	Liver	Liver
46	chr10:27401200-27435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr10:27401400-27425000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr10:27403000-27428400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:27403200-27431600	Strong transcription	NH-A	brain
50	chr10:27403600-27425200	Strong transcription	HepG2	liver

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