Variant report

Variant	rs2149413
Chromosome Location	chr10:27430311-27430312
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	chr10:27428602..27430757-chr10:27441984..27444205,3	K562	blood:
2	chr10:27411542..27413945-chr10:27429533..27432280,2	K562	blood:

Variant related genes	Relation type
ENSG00000120539	Chromatin interaction
ENSG00000136758	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10443987	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741125	0.92[ASN][1000 genomes]
rs10741128	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10764662	0.92[ASN][1000 genomes]
rs10764672	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10829165	0.92[ASN][1000 genomes]
rs10829190	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10829195	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1085782	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015463	0.92[ASN][1000 genomes]
rs12411584	0.92[ASN][1000 genomes]
rs12413716	0.92[ASN][1000 genomes]
rs12415615	0.92[ASN][1000 genomes]
rs1253045	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927573	0.92[ASN][1000 genomes]
rs1753413	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1753415	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1755399	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775350	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974366	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368197	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463941	0.83[ASN][1000 genomes]
rs41279940	0.83[ASN][1000 genomes]
rs4747584	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749221	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4749224	0.92[ASN][1000 genomes]
rs4749228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749230	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749233	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6415983	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6482587	0.92[ASN][1000 genomes]
rs6482588	0.92[ASN][1000 genomes]
rs6482593	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482594	0.88[AMR][1000 genomes]
rs6482595	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482598	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7079807	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7087033	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7096505	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs788210	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788211	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788220	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788237	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902540	0.92[ASN][1000 genomes]
rs7907988	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7910168	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7911024	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7915902	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918232	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2149413	MASTL	cis	Nerve Tibial	GTEx
rs2149413	MASTL	cis	Muscle Skeletal	GTEx
rs2149413	MASTL	cis	Esophagus Muscularis	GTEx
rs2149413	MASTL	cis	Whole Blood	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	chr10:27394200-27432600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:27394800-27432800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:27395400-27437800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:27396200-27440600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:27396800-27432000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:27397600-27438600	Strong transcription	Fetal Thymus	thymus
11	chr10:27398200-27434200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:27398400-27435200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr10:27398600-27431600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr10:27398600-27434800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:27398600-27434800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr10:27398600-27434800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr10:27398600-27436400	Strong transcription	Dnd41	blood
18	chr10:27398800-27438200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr10:27398800-27438200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:27399000-27431400	Strong transcription	Placenta	Placenta
21	chr10:27399600-27435200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:27399600-27438400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr10:27399800-27438600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr10:27400400-27438400	Strong transcription	Liver	Liver
25	chr10:27401200-27435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:27403200-27431600	Strong transcription	NH-A	brain
27	chr10:27407800-27436400	Weak transcription	Right Ventricle	heart
28	chr10:27411200-27436000	Weak transcription	Esophagus	oesophagus
29	chr10:27412400-27440200	Weak transcription	Fetal Heart	heart
30	chr10:27413600-27430800	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:27415400-27436200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr10:27416800-27430800	Strong transcription	HUVEC	blood vessel
33	chr10:27418000-27436400	Weak transcription	Spleen	Spleen
34	chr10:27419200-27438600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr10:27419200-27438800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr10:27419400-27441400	Weak transcription	Stomach Mucosa	stomach
37	chr10:27419800-27436200	Weak transcription	Gastric	stomach
38	chr10:27421000-27430800	Weak transcription	Hela-S3	cervix
39	chr10:27421000-27436200	Weak transcription	Fetal Brain Male	brain
40	chr10:27421800-27431600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:27423400-27436400	Weak transcription	Colonic Mucosa	Colon
42	chr10:27423600-27431400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:27423600-27435000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr10:27423800-27435600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr10:27424000-27432800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr10:27424000-27432800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr10:27424000-27436400	Weak transcription	Small Intestine	intestine
48	chr10:27424200-27432400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr10:27424600-27430800	Strong transcription	A549	lung
50	chr10:27424600-27431200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links