Variant report

Variant	rs4749221
Chromosome Location	chr10:27363349-27363350
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10443987	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10741128	0.85[AMR][1000 genomes]
rs10829190	0.85[AMR][1000 genomes]
rs10829195	0.85[AMR][1000 genomes]
rs1085782	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1753413	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1753415	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1755399	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1775350	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1974366	0.82[EUR][1000 genomes]
rs2149413	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2368197	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4747584	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4749228	0.84[AMR][1000 genomes]
rs4749230	0.85[AMR][1000 genomes]
rs4749233	0.81[EUR][1000 genomes]
rs6415983	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6482592	0.80[EUR][1000 genomes]
rs6482593	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6482594	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6482595	0.90[EUR][1000 genomes]
rs6482598	0.85[AMR][1000 genomes]
rs7079807	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7087033	0.88[AMR][1000 genomes]
rs7096505	0.85[EUR][1000 genomes]
rs788210	0.82[EUR][1000 genomes]
rs788211	0.88[EUR][1000 genomes]
rs788220	0.80[EUR][1000 genomes]
rs7907988	0.84[AMR][1000 genomes]
rs7910168	0.81[EUR][1000 genomes]
rs7911024	0.84[AMR][1000 genomes]
rs7915902	0.85[AMR][1000 genomes]
rs7918232	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9833	0.84[AMR][1000 genomes];0.80[EUR][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	nsv894979	chr10:27325119-27375411	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4749221	MASTL	cis	Muscle Skeletal	GTEx
rs4749221	MASTL	cis	Esophagus Muscularis	GTEx
rs4749221	MASTL	cis	Nerve Tibial	GTEx

Chromatin state (count:124 , 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	chr10:27313200-27363400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:27313200-27388200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr10:27313200-27388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr10:27313400-27388400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr10:27314600-27388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:27323400-27388600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:27326600-27366000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr10:27326800-27388200	Weak transcription	Brain Substantia Nigra	brain
11	chr10:27328000-27388200	Weak transcription	K562	blood
12	chr10:27330200-27381400	Weak transcription	HSMMtube	muscle
13	chr10:27333000-27384600	Weak transcription	Fetal Heart	heart
14	chr10:27341000-27363400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr10:27341200-27365600	Weak transcription	HUVEC	blood vessel
16	chr10:27341400-27376600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr10:27342000-27367600	Weak transcription	Stomach Mucosa	stomach
18	chr10:27348600-27365600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr10:27350200-27364000	Weak transcription	NHDF-Ad	bronchial
20	chr10:27350200-27387800	Weak transcription	HMEC	breast
21	chr10:27351600-27366200	Weak transcription	HSMM	muscle
22	chr10:27351600-27366400	Weak transcription	NHLF	lung
23	chr10:27353000-27365800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:27356400-27363800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr10:27356400-27366600	Strong transcription	Fetal Muscle Leg	muscle
26	chr10:27356400-27367000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:27357400-27364200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr10:27357800-27363600	Strong transcription	Fetal Intestine Small	intestine
29	chr10:27358400-27363400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr10:27358400-27366000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr10:27358600-27388400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr10:27360400-27363400	Strong transcription	A549	lung
33	chr10:27360400-27363600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr10:27360400-27364600	Strong transcription	Brain Germinal Matrix	brain
35	chr10:27360400-27364600	Strong transcription	Fetal Intestine Large	intestine
36	chr10:27360400-27364800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr10:27360400-27364800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr10:27360400-27364800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr10:27360400-27366400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr10:27360400-27367400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr10:27360400-27367400	Strong transcription	Fetal Thymus	thymus
42	chr10:27360400-27368600	Strong transcription	Liver	Liver
43	chr10:27360400-27378800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:27360400-27383800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr10:27360400-27384800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:27360600-27364600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr10:27360600-27364600	Strong transcription	Dnd41	blood
48	chr10:27360600-27366200	Strong transcription	Primary T cells from cord blood	blood
49	chr10:27360600-27366600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr10:27360600-27366800	Strong transcription	Duodenum Mucosa	Duodenum

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