Variant report

Variant	rs28502551
Chromosome Location	chr15:72984171-72984172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:72976807..72979134-chr15:72983735..72985285,2	K562	blood:
2	chr15:72982189..72984616-chr15:73052053..73053998,2	K562	blood:
3	chr15:72978495..72980442-chr15:72983372..72985333,2	MCF-7	breast:
4	chr15:72977348..72979954-chr15:72981052..72985507,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175202	Chromatin interaction
ENSG00000140463	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11072384	0.95[ASN][1000 genomes]
rs12439375	0.81[AMR][1000 genomes]
rs12440951	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12441084	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12592955	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12594667	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12594844	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16957293	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2278543	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28398258	0.87[AFR][1000 genomes]
rs3179616	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34337823	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35136341	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35958407	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759870	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3850988	0.96[ASN][1000 genomes]
rs4776611	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4777528	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4777529	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4777530	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4777531	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4777537	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4777538	0.93[EUR][1000 genomes]
rs4777540	0.82[AMR][1000 genomes]
rs4777545	0.81[AMR][1000 genomes]
rs57621041	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58600393	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59049627	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59152128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60405894	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60601886	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60674997	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61311866	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62017593	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62017598	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62017623	0.81[AMR][1000 genomes]
rs72662112	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72737337	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8032586	0.81[AMR][1000 genomes]
rs8033644	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	esv3430383	chr15:72821093-73035167	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv94389	chr15:72980773-72984645	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28502551	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72979200-72984200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:72979200-73023600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:72979200-73023600	Weak transcription	Lung	lung
4	chr15:72979400-72984800	Weak transcription	Fetal Lung	lung
5	chr15:72979400-72986200	Weak transcription	Fetal Heart	heart
6	chr15:72979400-73002000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr15:72979400-73002000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr15:72979400-73004400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:72979400-73006000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:72979400-73027200	Weak transcription	Aorta	Aorta
11	chr15:72979600-72986800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr15:72979600-72988000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr15:72979600-72998800	Weak transcription	NH-A	brain
14	chr15:72979600-73002200	Weak transcription	Ovary	ovary
15	chr15:72979600-73004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:72979600-73004200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr15:72979600-73004600	Weak transcription	Primary B cells from cord blood	blood
18	chr15:72979600-73004600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:72979600-73023200	Weak transcription	Fetal Kidney	kidney
20	chr15:72979600-73026800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:72979800-72984200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:72979800-72984800	Weak transcription	Fetal Intestine Small	intestine
23	chr15:72979800-72989600	Weak transcription	Fetal Brain Female	brain
24	chr15:72979800-72998600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:72979800-73002000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:72979800-73004000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:72979800-73004400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:72979800-73007200	Weak transcription	Left Ventricle	heart
29	chr15:72979800-73027400	Weak transcription	Hela-S3	cervix
30	chr15:72980000-73002200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:72980000-73002200	Weak transcription	Fetal Stomach	stomach
32	chr15:72980000-73004000	Weak transcription	Fetal Muscle Leg	muscle
33	chr15:72980200-72988800	Weak transcription	A549	lung
34	chr15:72980200-72996200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:72980200-72998600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:72980200-73004200	Weak transcription	Liver	Liver
37	chr15:72980200-73008000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr15:72981000-73018600	Weak transcription	Pancreas	Pancrea

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