Variant report

Variant	rs12571579
Chromosome Location	chr10:27455153-27455154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27446193..27448131-chr10:27454155..27455993,2	K562	blood:
2	chr10:27454152..27457460-chr10:27457862..27459944,3	K562	blood:
3	chr10:27454675..27456302-chr10:27458015..27459712,2	MCF-7	breast:
4	chr10:27425052..27426946-chr10:27454122..27455994,3	K562	blood:
5	chr10:27446193..27447784-chr10:27452402..27455185,2	K562	blood:
6	chr10:27442227..27444890-chr10:27452653..27455939,3	K562	blood:

Variant related genes	Relation type
ENSG00000136758	Chromatin interaction
ENSG00000120539	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12414055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572707	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28365962	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3758404	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3758407	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3802526	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3824592	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4749232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749234	0.95[ASN][1000 genomes]
rs56163609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598015	0.82[EUR][1000 genomes]
rs73598019	0.82[EUR][1000 genomes]
rs73598020	0.82[EUR][1000 genomes]
rs73598021	0.82[EUR][1000 genomes]
rs73598022	0.82[EUR][1000 genomes]
rs73598023	0.82[EUR][1000 genomes]
rs73598024	0.82[EUR][1000 genomes]
rs73598035	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73598037	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598041	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73598044	0.81[AFR][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
rs12571579	MASTL	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27445000-27486200	Weak transcription	Fetal Heart	heart
2	chr10:27445400-27490800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:27445600-27470800	Weak transcription	Psoas Muscle	Psoas
4	chr10:27446400-27476200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr10:27446400-27476400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:27446400-27490800	Weak transcription	Fetal Brain Male	brain
7	chr10:27446400-27499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr10:27446400-27508400	Weak transcription	Small Intestine	intestine
9	chr10:27446600-27476000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr10:27446600-27477200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr10:27447000-27456200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr10:27447000-27460400	Strong transcription	Placenta	Placenta
13	chr10:27447000-27476600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr10:27447000-27477000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:27447000-27477800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr10:27447200-27455800	Strong transcription	Fetal Intestine Small	intestine
17	chr10:27447200-27456200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:27447200-27456800	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr10:27447200-27457400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr10:27447200-27457600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:27447200-27461000	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr10:27447200-27461000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:27447200-27476200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:27447200-27476600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:27447200-27478000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr10:27447200-27478200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:27447400-27456200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:27447400-27457800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:27447400-27457800	Strong transcription	Fetal Intestine Large	intestine
30	chr10:27447400-27460200	Strong transcription	Adipose Nuclei	Adipose
31	chr10:27447400-27460600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:27447400-27460800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:27447400-27464000	Weak transcription	Stomach Mucosa	stomach
34	chr10:27447400-27464200	Strong transcription	Fetal Thymus	thymus
35	chr10:27447400-27476600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:27447400-27477200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:27447400-27478200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr10:27447600-27456200	Strong transcription	HepG2	liver
39	chr10:27447600-27456800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr10:27447600-27457000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr10:27447600-27457400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:27447600-27457600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:27447600-27460200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr10:27447600-27460200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr10:27447600-27460800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr10:27447800-27456400	Strong transcription	Thymus	Thymus
47	chr10:27447800-27457400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr10:27447800-27457800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr10:27447800-27459800	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr10:27448000-27457400	Strong transcription	Primary T cells fromperipheralblood	blood

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