Variant report

Variant	rs73598032
Chromosome Location	chr10:27431869-27431870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27431175..27433119-chr10:27441858..27444183,2	K562	blood:
2	chr10:27430806..27432667-chr10:27529142..27532060,2	MCF-7	breast:
3	chr10:27418452..27420910-chr10:27431210..27433403,2	K562	blood:
4	chr10:27411542..27413945-chr10:27429533..27432280,2	K562	blood:

Variant related genes	Relation type
ENSG00000107897	Chromatin interaction
ENSG00000120539	Chromatin interaction
ENSG00000262412	Chromatin interaction
ENSG00000136758	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11015603	1.00[ASN][1000 genomes]
rs12356360	1.00[ASN][1000 genomes]
rs12360088	1.00[ASN][1000 genomes]
rs12572707	0.82[EUR][1000 genomes]
rs16927620	1.00[ASN][1000 genomes]
rs16927627	1.00[ASN][1000 genomes]
rs16927642	1.00[ASN][1000 genomes]
rs16927653	1.00[ASN][1000 genomes]
rs16927663	1.00[ASN][1000 genomes]
rs1753423	1.00[ASN][1000 genomes]
rs1775349	1.00[ASN][1000 genomes]
rs1970541	1.00[ASN][1000 genomes]
rs2479908	1.00[ASN][1000 genomes]
rs2479909	1.00[ASN][1000 genomes]
rs2479911	1.00[ASN][1000 genomes]
rs2483490	1.00[ASN][1000 genomes]
rs2483491	1.00[ASN][1000 genomes]
rs2483492	1.00[ASN][1000 genomes]
rs2489372	1.00[ASN][1000 genomes]
rs28365962	0.82[EUR][1000 genomes]
rs2987452	1.00[ASN][1000 genomes]
rs2995499	1.00[ASN][1000 genomes]
rs3824592	0.82[EUR][1000 genomes]
rs41282204	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282208	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282216	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282218	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41299222	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522064	1.00[ASN][1000 genomes]
rs481629	1.00[ASN][1000 genomes]
rs57132590	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59162492	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62622019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482608	1.00[ASN][1000 genomes]
rs670157	1.00[ASN][1000 genomes]
rs73596346	0.93[AMR][1000 genomes]
rs73596349	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73596350	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73596351	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73596353	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73596354	1.00[ASN][1000 genomes]
rs73598015	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598019	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598020	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598021	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598022	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598023	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598027	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598030	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73598031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598033	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598034	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598035	0.82[EUR][1000 genomes]
rs73598036	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598041	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598044	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs788214	1.00[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73598032	MASTL	cis	lung	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	chr10:27398600-27434800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:27398600-27434800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr10:27398600-27434800	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr10:27398600-27436400	Strong transcription	Dnd41	blood
17	chr10:27398800-27438200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr10:27398800-27438200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:27399600-27435200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:27399600-27438400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr10:27399800-27438600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:27400400-27438400	Strong transcription	Liver	Liver
23	chr10:27401200-27435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:27407800-27436400	Weak transcription	Right Ventricle	heart
25	chr10:27411200-27436000	Weak transcription	Esophagus	oesophagus
26	chr10:27412400-27440200	Weak transcription	Fetal Heart	heart
27	chr10:27415400-27436200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr10:27418000-27436400	Weak transcription	Spleen	Spleen
29	chr10:27419200-27438600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr10:27419200-27438800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr10:27419400-27441400	Weak transcription	Stomach Mucosa	stomach
32	chr10:27419800-27436200	Weak transcription	Gastric	stomach
33	chr10:27421000-27436200	Weak transcription	Fetal Brain Male	brain
34	chr10:27423400-27436400	Weak transcription	Colonic Mucosa	Colon
35	chr10:27423600-27435000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:27423800-27435600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr10:27424000-27432800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr10:27424000-27432800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr10:27424000-27436400	Weak transcription	Small Intestine	intestine
40	chr10:27424200-27432400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr10:27424600-27432400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr10:27424800-27432000	Weak transcription	Lung	lung
43	chr10:27424800-27436000	Weak transcription	Aorta	Aorta
44	chr10:27425000-27433000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr10:27425000-27433000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr10:27425000-27434800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr10:27425000-27436200	Weak transcription	Brain Substantia Nigra	brain
48	chr10:27425200-27433200	Weak transcription	Colon Smooth Muscle	Colon
49	chr10:27425400-27432800	Weak transcription	NHLF	lung
50	chr10:27425400-27435000	Weak transcription	Brain Angular Gyrus	brain

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