Variant report

Variant	rs28642081
Chromosome Location	chr15:72255217-72255218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr15:72254748-72255327	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
MYO9A	TF binding region

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs11072334	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12101366	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12101856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12102227	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12372924	1.00[AMR][1000 genomes]
rs13329116	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13329270	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13329340	1.00[AMR][1000 genomes]
rs28367264	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28373432	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28378260	1.00[AMR][1000 genomes]
rs28379334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28393460	1.00[AMR][1000 genomes]
rs28396234	1.00[AMR][1000 genomes]
rs28397143	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28397237	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28397783	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28403882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28408067	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28409017	0.81[AFR][1000 genomes]
rs28409864	1.00[AMR][1000 genomes]
rs28412105	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28413902	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28416103	1.00[AMR][1000 genomes]
rs28421817	1.00[AMR][1000 genomes]
rs28428645	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28429589	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28430988	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28445807	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28448787	1.00[AMR][1000 genomes]
rs28449356	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28450008	1.00[AMR][1000 genomes]
rs28450424	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28451732	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28455090	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28456991	1.00[AMR][1000 genomes]
rs28465335	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28470660	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28482979	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28483934	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28485920	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28501562	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28502516	1.00[AMR][1000 genomes]
rs28504509	1.00[AMR][1000 genomes]
rs28504990	1.00[AMR][1000 genomes]
rs28514321	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28515972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28529658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28535954	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28536592	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28542557	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28543029	1.00[AMR][1000 genomes]
rs28547979	1.00[AMR][1000 genomes]
rs28548453	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28552371	1.00[AMR][1000 genomes]
rs28553452	1.00[AMR][1000 genomes]
rs28569017	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28570214	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28573725	1.00[AMR][1000 genomes]
rs28578220	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28583168	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28589979	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28599944	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28605814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28618096	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28625307	0.81[AFR][1000 genomes]
rs28628140	1.00[AMR][1000 genomes]
rs28628792	1.00[AMR][1000 genomes]
rs28630701	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28634283	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28636054	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28639590	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28643436	1.00[AMR][1000 genomes]
rs28643497	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28654176	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28654851	1.00[AMR][1000 genomes]
rs28654861	1.00[AMR][1000 genomes]
rs28657431	1.00[AMR][1000 genomes]
rs28658414	1.00[AMR][1000 genomes]
rs28660217	1.00[AMR][1000 genomes]
rs28660581	1.00[AMR][1000 genomes]
rs28662800	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28663692	1.00[AMR][1000 genomes]
rs28667521	1.00[AMR][1000 genomes]
rs28670261	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28675378	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28676909	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28681225	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28690018	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28701136	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28705696	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28707151	1.00[AMR][1000 genomes]
rs28707565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28709937	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28715777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28725348	1.00[AMR][1000 genomes]
rs28725466	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28727443	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28741048	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28778881	0.81[AFR][1000 genomes]
rs28786091	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28791192	1.00[AMR][1000 genomes]
rs28801155	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28808678	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28809863	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28812537	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28817677	0.81[AFR][1000 genomes]
rs28824293	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28830268	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28833566	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28853032	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28872877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28879707	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9888653	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9920204	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9920223	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9920476	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9920987	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv516871	chr15:72126034-72325595	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv904336	chr15:72145937-72329906	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv457197	chr15:72203517-72296328	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv569910	chr15:72203517-72296328	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv569911	chr15:72203517-72305982	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv457198	chr15:72203517-72325595	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv569912	chr15:72203517-72325595	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72225000-72255400	Weak transcription	Left Ventricle	heart
2	chr15:72225000-72259800	Weak transcription	Brain Anterior Caudate	brain
3	chr15:72225000-72263600	Weak transcription	Fetal Stomach	stomach
4	chr15:72225000-72267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:72225000-72281600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:72225000-72282000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:72225000-72305200	Weak transcription	Psoas Muscle	Psoas
8	chr15:72225000-72305600	Weak transcription	Gastric	stomach
9	chr15:72225200-72259200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:72225200-72265000	Weak transcription	Fetal Kidney	kidney
11	chr15:72225800-72270200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr15:72226600-72281800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr15:72226800-72271200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr15:72226800-72343600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:72227600-72265800	Weak transcription	HSMMtube	muscle
16	chr15:72227600-72281600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:72227600-72281800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:72227800-72281600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr15:72227800-72326200	Weak transcription	Fetal Brain Male	brain
20	chr15:72228200-72265600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr15:72228200-72268200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:72228600-72258800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr15:72228800-72261400	Weak transcription	Ovary	ovary
24	chr15:72228800-72268000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr15:72228800-72279600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr15:72228800-72281600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr15:72230600-72291000	Weak transcription	Primary B cells from cord blood	blood
28	chr15:72232800-72255800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr15:72232800-72264800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr15:72233400-72261400	Weak transcription	GM12878-XiMat	blood
31	chr15:72233400-72267400	Weak transcription	HMEC	breast
32	chr15:72233400-72267800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:72233400-72268200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:72237800-72255400	Weak transcription	Right Ventricle	heart
35	chr15:72240000-72268200	Weak transcription	Esophagus	oesophagus
36	chr15:72240200-72282200	Weak transcription	Aorta	Aorta
37	chr15:72241000-72261800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr15:72242200-72260000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr15:72244200-72269400	Weak transcription	HSMM	muscle
40	chr15:72244200-72281800	Weak transcription	Brain Germinal Matrix	brain
41	chr15:72244400-72269400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:72244400-72298600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr15:72244600-72269400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr15:72244800-72281600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr15:72245600-72259600	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:72246400-72265800	Weak transcription	Lung	lung
47	chr15:72246600-72268000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr15:72246600-72293600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:72246800-72267400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:72247400-72256400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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