Variant report

Variant	rs7078662
Chromosome Location	chr10:27503344-27503345
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27503068..27505170-chr10:27511263..27513573,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10829211	0.81[EUR][1000 genomes]
rs11015613	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1144508	0.94[EUR][1000 genomes]
rs1144509	0.81[EUR][1000 genomes]
rs1262128	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12763511	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12764139	0.82[ASN][1000 genomes]
rs12771194	0.87[ASN][1000 genomes]
rs12772181	0.82[ASN][1000 genomes]
rs12772875	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12782501	0.81[ASN][1000 genomes]
rs12783136	0.81[ASN][1000 genomes]
rs1618826	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17531310	0.92[EUR][1000 genomes]
rs1753387	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1753394	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1775348	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1775352	0.96[EUR][1000 genomes]
rs1775354	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1780090	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1780093	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1819352	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1831187	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1831188	0.94[EUR][1000 genomes]
rs1854340	0.92[EUR][1000 genomes]
rs1974364	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2026015	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2274636	0.82[ASN][1000 genomes]
rs2274637	0.82[ASN][1000 genomes]
rs2368219	0.84[EUR][1000 genomes]
rs2770200	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2770201	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2780665	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2780666	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2780668	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2780670	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2780671	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2780673	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2780677	0.84[EUR][1000 genomes]
rs2780678	0.85[EUR][1000 genomes]
rs2780679	0.83[EUR][1000 genomes]
rs2797077	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2797079	0.96[EUR][1000 genomes]
rs2800391	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2800393	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2800394	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2800395	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2800397	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2800398	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2800399	0.82[EUR][1000 genomes]
rs2800401	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2800402	0.84[EUR][1000 genomes]
rs2800403	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2800404	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2800405	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2800406	0.84[EUR][1000 genomes]
rs34056679	0.82[ASN][1000 genomes]
rs34124770	0.87[ASN][1000 genomes]
rs34341620	0.81[ASN][1000 genomes]
rs34383490	0.81[ASN][1000 genomes]
rs34522667	0.85[ASN][1000 genomes]
rs34743977	0.86[ASN][1000 genomes]
rs35149458	0.87[ASN][1000 genomes]
rs35462097	0.82[ASN][1000 genomes]
rs35928931	0.81[ASN][1000 genomes]
rs36050714	0.82[ASN][1000 genomes]
rs3758438	0.81[ASN][1000 genomes]
rs4747589	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4747595	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4749236	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4749238	0.80[EUR][1000 genomes]
rs4749239	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs480738	0.83[EUR][1000 genomes]
rs484172	0.81[EUR][1000 genomes]
rs501495	0.83[EUR][1000 genomes]
rs534226	0.83[EUR][1000 genomes]
rs559839	0.83[EUR][1000 genomes]
rs57671772	0.82[ASN][1000 genomes]
rs623380	0.81[EUR][1000 genomes]
rs624106	0.83[EUR][1000 genomes]
rs640284	0.81[EUR][1000 genomes]
rs642428	0.82[EUR][1000 genomes]
rs642430	0.82[EUR][1000 genomes]
rs6482603	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6482604	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67262546	0.81[ASN][1000 genomes]
rs7074295	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7085905	0.95[EUR][1000 genomes]
rs72807660	0.82[ASN][1000 genomes]
rs7477200	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs788199	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs788201	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs788202	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs788203	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs788205	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs788207	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs788212	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs788215	0.84[EUR][1000 genomes]
rs788228	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs788230	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs788232	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7902034	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7902126	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7914155	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7917207	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs944909	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv894980	chr10:27477285-27526531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7078662	MASTL	cis	Whole Blood	GTEx
rs7078662	MASTL	cis	Artery Tibial	GTEx
rs7078662	ACBD5	cis	Thyroid	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27446400-27508400	Weak transcription	Small Intestine	intestine
2	chr10:27473200-27524200	Weak transcription	Stomach Mucosa	stomach
3	chr10:27474200-27512000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr10:27475600-27528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr10:27476200-27528600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:27481600-27527800	Weak transcription	Psoas Muscle	Psoas
7	chr10:27482600-27512600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr10:27483800-27512200	Strong transcription	Liver	Liver
9	chr10:27484000-27512400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr10:27484000-27512400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:27484000-27512400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr10:27484000-27512600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr10:27484200-27512400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr10:27484600-27512400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:27484800-27510800	Strong transcription	Left Ventricle	heart
16	chr10:27484800-27512400	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr10:27484800-27513000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr10:27484800-27513200	Strong transcription	Fetal Intestine Large	intestine
19	chr10:27485000-27512400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr10:27485200-27512200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr10:27485200-27512400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:27485200-27512400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:27485200-27512600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr10:27485800-27505800	Strong transcription	Fetal Muscle Leg	muscle
25	chr10:27486600-27508800	Strong transcription	Fetal Intestine Small	intestine
26	chr10:27486600-27508800	Strong transcription	Fetal Stomach	stomach
27	chr10:27486600-27512200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr10:27487200-27512400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr10:27488000-27508800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr10:27488400-27512400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:27488600-27528600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr10:27488800-27507800	Weak transcription	Fetal Heart	heart
33	chr10:27489400-27504600	Strong transcription	Dnd41	blood
34	chr10:27489600-27512400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr10:27489800-27512200	Strong transcription	Adipose Nuclei	Adipose
36	chr10:27489800-27512400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr10:27489800-27512400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:27490000-27512400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr10:27490000-27512400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:27490000-27512600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:27490200-27506000	Strong transcription	Primary T cells from cord blood	blood
42	chr10:27490200-27512000	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr10:27490400-27504600	Strong transcription	Fetal Thymus	thymus
44	chr10:27490400-27508800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr10:27490600-27509000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:27491200-27512400	Strong transcription	Placenta	Placenta
47	chr10:27491400-27512600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr10:27491600-27503800	Strong transcription	Ovary	ovary
49	chr10:27491600-27505600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr10:27491800-27527800	Weak transcription	Fetal Brain Male	brain

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