Variant report

Variant	rs8038007
Chromosome Location	chr15:72568043-72568044
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:72514333..72526693-chr15:72558323..72568559,52	MCF-7	breast:
2	chr15:72519310..72525410-chr15:72562881..72568730,22	MCF-7	breast:
3	chr15:72518884..72522571-chr15:72567985..72570130,3	K562	blood:
4	chr15:72518424..72531344-chr15:72562525..72571046,23	K562	blood:
5	chr15:72513653..72518363-chr15:72563063..72568184,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067225	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1000281	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1035744	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10851850	0.93[EUR][1000 genomes]
rs11072349	0.89[EUR][1000 genomes]
rs11072350	0.91[EUR][1000 genomes]
rs11630170	0.87[EUR][1000 genomes]
rs11630611	0.85[EUR][1000 genomes]
rs11633327	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11634622	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11637611	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12442886	0.81[EUR][1000 genomes]
rs12904652	0.83[EUR][1000 genomes]
rs13858	0.82[EUR][1000 genomes]
rs16956623	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2052713	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2278987	0.80[EUR][1000 genomes]
rs2415134	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2957365	0.80[EUR][1000 genomes]
rs35603965	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3759900	0.83[EUR][1000 genomes]
rs3759902	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4506844	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55763892	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62022788	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62022789	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6494992	0.83[EUR][1000 genomes]
rs6494997	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7162299	0.81[EUR][1000 genomes]
rs7164780	0.80[EUR][1000 genomes]
rs7169264	0.83[EUR][1000 genomes]
rs7170456	0.87[EUR][1000 genomes]
rs7175197	0.87[EUR][1000 genomes]
rs7179427	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7179942	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7183055	0.82[EUR][1000 genomes]
rs7183810	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8023788	0.87[EUR][1000 genomes]
rs8025939	0.87[EUR][1000 genomes]
rs8027164	0.80[EUR][1000 genomes]
rs8027647	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8030815	0.80[EUR][1000 genomes]
rs8032222	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8037381	0.81[EUR][1000 genomes]
rs8040828	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8192362	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];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	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
4	nsv1601	chr15:72549885-72585176	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv3366898	chr15:72567548-72569446	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8038007	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72565600-72569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:72565800-72568400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:72565800-72572600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:72566000-72568600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:72566000-72568800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:72566000-72571000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:72566000-72573600	Weak transcription	Brain Anterior Caudate	brain
8	chr15:72566000-72573600	Weak transcription	Brain Substantia Nigra	brain
9	chr15:72566000-72575800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr15:72566000-72576400	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:72566000-72577800	Weak transcription	Fetal Intestine Small	intestine
12	chr15:72566000-72582400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr15:72566000-72611400	Weak transcription	Right Ventricle	heart
14	chr15:72566200-72573000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr15:72566200-72573600	Weak transcription	Brain Hippocampus Middle	brain
16	chr15:72566200-72577000	Weak transcription	Ovary	ovary
17	chr15:72566200-72577600	Weak transcription	Brain Angular Gyrus	brain
18	chr15:72566200-72578400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:72566200-72579200	Weak transcription	Primary T cells from cord blood	blood
20	chr15:72566400-72573600	Weak transcription	K562	blood
21	chr15:72567000-72611800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:72567400-72569000	Enhancers	HSMMtube	muscle
23	chr15:72567600-72569200	Enhancers	HSMM	muscle
24	chr15:72567800-72568800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr15:72567800-72581400	Weak transcription	Fetal Muscle Leg	muscle

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