Variant report

Variant	rs8033580
Chromosome Location	chr15:72994968-72994969
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10459647	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11072385	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11631214	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11631352	0.85[CEU][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes]
rs2277598	0.95[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2304597	0.95[CEU][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34661924	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4776614	0.86[JPT][hapmap]
rs4777532	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4777534	0.92[JPT][hapmap]
rs55914134	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62017600	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6495015	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7167076	0.95[CEU][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7171728	0.93[JPT][hapmap]
rs7176223	0.94[CEU][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7176235	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7178130	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8024986	0.95[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8025333	0.95[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8027181	0.93[JPT][hapmap]
rs8030477	0.86[JPT][hapmap]
rs8031455	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8033073	0.95[CEU][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9460	0.95[CEU][hapmap];0.92[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs998020	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8033580	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72979200-73023600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:72979200-73023600	Weak transcription	Lung	lung
3	chr15:72979400-73002000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr15:72979400-73002000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr15:72979400-73004400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr15:72979400-73006000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr15:72979400-73027200	Weak transcription	Aorta	Aorta
8	chr15:72979600-72998800	Weak transcription	NH-A	brain
9	chr15:72979600-73002200	Weak transcription	Ovary	ovary
10	chr15:72979600-73004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:72979600-73004200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr15:72979600-73004600	Weak transcription	Primary B cells from cord blood	blood
13	chr15:72979600-73004600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr15:72979600-73023200	Weak transcription	Fetal Kidney	kidney
15	chr15:72979600-73026800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:72979800-72998600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:72979800-73002000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:72979800-73004000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:72979800-73004400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:72979800-73007200	Weak transcription	Left Ventricle	heart
21	chr15:72979800-73027400	Weak transcription	Hela-S3	cervix
22	chr15:72980000-73002200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:72980000-73002200	Weak transcription	Fetal Stomach	stomach
24	chr15:72980000-73004000	Weak transcription	Fetal Muscle Leg	muscle
25	chr15:72980200-72996200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:72980200-72998600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:72980200-73004200	Weak transcription	Liver	Liver
28	chr15:72980200-73008000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr15:72981000-73018600	Weak transcription	Pancreas	Pancrea
30	chr15:72985000-73003800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr15:72985200-73002000	Weak transcription	Fetal Lung	lung
32	chr15:72985200-73021000	Weak transcription	Fetal Intestine Small	intestine
33	chr15:72989000-73004000	Weak transcription	Brain Hippocampus Middle	brain
34	chr15:72989200-73001600	Weak transcription	A549	lung
35	chr15:72990400-73004400	Weak transcription	Primary T cells from cord blood	blood
36	chr15:72992200-73003000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:72992800-73004400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:72993000-73028800	Weak transcription	NHEK	skin

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