Variant report

Variant	rs6482602
Chromosome Location	chr10:27476647-27476648
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	chr10:27468624..27471267-chr10:27475372..27477159,2	K562	blood:
2	chr10:27475897..27479363-chr10:27528009..27531055,4	K562	blood:

Variant related genes	Relation type
ENSG00000107897	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10430596	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10764678	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10764688	0.83[ASN][1000 genomes]
rs10829183	0.86[ASN][1000 genomes]
rs10829194	0.87[ASN][1000 genomes]
rs11015536	0.87[ASN][1000 genomes]
rs11015541	0.88[ASN][1000 genomes]
rs11015553	0.87[ASN][1000 genomes]
rs11015599	0.90[ASN][1000 genomes]
rs11015604	0.81[ASN][1000 genomes]
rs11598615	0.81[ASN][1000 genomes]
rs12255977	0.87[ASN][1000 genomes]
rs1557167	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1557169	0.80[AMR][1000 genomes]
rs1974367	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2275752	0.87[ASN][1000 genomes]
rs35805599	0.94[ASN][1000 genomes]
rs4747589	0.83[ASN][1000 genomes]
rs4749236	0.83[ASN][1000 genomes]
rs4749238	0.81[ASN][1000 genomes]
rs55955460	0.87[ASN][1000 genomes]
rs6482603	0.83[ASN][1000 genomes]
rs67177346	0.87[ASN][1000 genomes]
rs7074295	0.83[ASN][1000 genomes]
rs7075448	0.85[ASN][1000 genomes]
rs7080173	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7080568	0.83[ASN][1000 genomes]
rs7099019	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7902126	0.81[ASN][1000 genomes]
rs7903590	0.81[ASN][1000 genomes]
rs7907492	0.87[ASN][1000 genomes]
rs7909135	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7909444	0.87[ASN][1000 genomes]
rs7910396	0.87[ASN][1000 genomes]
rs7921222	0.87[ASN][1000 genomes]
rs7922972	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs882475	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs6482602	MASTL	cis	Skin Sun Exposed Lower leg	GTEx
rs6482602	MASTL	cis	Artery Tibial	GTEx
rs6482602	MASTL	cis	Esophagus Muscularis	GTEx
rs6482602	YME1L1	Cis_1M	lymphoblastoid	RTeQTL
rs6482602	MASTL	cis	Whole Blood	GTEx
rs6482602	MASTL	cis	Nerve Tibial	GTEx
rs6482602	MASTL	cis	Muscle Skeletal	GTEx
rs6482602	MASTL	cis	Adipose Subcutaneous	GTEx
rs6482602	MASTL	cis	Thyroid	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27445000-27486200	Weak transcription	Fetal Heart	heart
2	chr10:27445400-27490800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:27446400-27490800	Weak transcription	Fetal Brain Male	brain
4	chr10:27446400-27499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:27446400-27508400	Weak transcription	Small Intestine	intestine
6	chr10:27446600-27477200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr10:27447000-27477000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:27447000-27477800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr10:27447200-27478000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr10:27447200-27478200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:27447400-27477200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:27447400-27478200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr10:27449600-27487200	Weak transcription	Colon Smooth Muscle	Colon
14	chr10:27453000-27487000	Weak transcription	Spleen	Spleen
15	chr10:27454800-27481200	Weak transcription	Brain Substantia Nigra	brain
16	chr10:27454800-27487000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr10:27455000-27478400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:27455000-27494600	Weak transcription	Aorta	Aorta
19	chr10:27455000-27495200	Weak transcription	Right Ventricle	heart
20	chr10:27455400-27492200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr10:27455600-27494600	Weak transcription	Pancreas	Pancrea
22	chr10:27455800-27485200	Weak transcription	Colonic Mucosa	Colon
23	chr10:27456200-27484200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr10:27456200-27484800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr10:27456200-27490800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr10:27456200-27496800	Weak transcription	Esophagus	oesophagus
27	chr10:27456800-27487000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr10:27457400-27481400	Weak transcription	NHLF	lung
29	chr10:27457600-27485200	Weak transcription	Brain Angular Gyrus	brain
30	chr10:27459000-27484400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr10:27459200-27489800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr10:27459400-27478200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr10:27463400-27477000	Strong transcription	Placenta	Placenta
34	chr10:27464800-27492800	Weak transcription	HSMMtube	muscle
35	chr10:27466400-27478200	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr10:27466600-27481000	Weak transcription	NHDF-Ad	bronchial
37	chr10:27466600-27484600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr10:27466600-27484800	Weak transcription	Left Ventricle	heart
39	chr10:27466800-27485200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr10:27466800-27488400	Weak transcription	HepG2	liver
41	chr10:27467000-27485000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr10:27467200-27485000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr10:27468800-27478200	Strong transcription	Liver	Liver
44	chr10:27469000-27476800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr10:27469000-27476800	Strong transcription	Fetal Thymus	thymus
46	chr10:27469800-27490600	Weak transcription	Gastric	stomach
47	chr10:27470000-27485200	Weak transcription	Fetal Brain Female	brain
48	chr10:27470600-27477000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr10:27472600-27476800	Strong transcription	A549	lung
50	chr10:27472600-27477000	Strong transcription	HSMM	muscle

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