Variant report

Variant	rs12591313
Chromosome Location	chr15:72556746-72556747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72521910..72524475-chr15:72556723..72559528,2	MCF-7	breast:
2	chr15:72522016..72523553-chr15:72554809..72557370,2	K562	blood:
3	chr15:72555189..72557005-chr15:72563474..72566331,2	K562	blood:
4	chr15:72522013..72524967-chr15:72555959..72558238,2	MCF-7	breast:
5	chr15:72553577..72557068-chr15:72560331..72566356,10	K562	blood:
6	chr15:72522016..72524904-chr15:72553366..72557370,3	K562	blood:
7	chr15:72555118..72559591-chr15:72562362..72567008,6	MCF-7	breast:
8	chr15:72548319..72550602-chr15:72554767..72558019,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000067225	Chromatin interaction
ENSG00000137817	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1037680	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072346	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11072351	0.97[ASN][1000 genomes]
rs11853101	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11858015	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12050895	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12439900	0.82[EUR][1000 genomes]
rs12442886	0.81[EUR][1000 genomes]
rs12591338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591426	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12592044	0.88[EUR][1000 genomes]
rs12593908	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12898585	0.86[EUR][1000 genomes]
rs12901580	0.81[EUR][1000 genomes]
rs12901886	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12902661	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12904652	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12908882	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12914070	0.81[EUR][1000 genomes]
rs16953769	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16956634	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2607090	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2856929	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2912231	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34189331	0.80[EUR][1000 genomes]
rs34487006	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35112434	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35167572	0.82[EUR][1000 genomes]
rs35186252	0.84[EUR][1000 genomes]
rs35206011	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35673773	0.84[EUR][1000 genomes]
rs35713471	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3743224	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3803471	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4131630	0.82[EUR][1000 genomes]
rs4238449	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4411469	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4445848	0.82[EUR][1000 genomes]
rs4776586	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4776589	1.00[ASN][1000 genomes]
rs4777480	0.81[EUR][1000 genomes]
rs4777484	0.82[EUR][1000 genomes]
rs4777489	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55854204	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60921026	0.87[ASN][1000 genomes]
rs713048	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7169264	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7172309	0.82[EUR][1000 genomes]
rs7182776	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7183196	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7183749	0.82[EUR][1000 genomes]
rs72733369	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8023703	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8028532	0.82[EUR][1000 genomes]
rs8192364	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8192386	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8192431	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12591313	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72530400-72563400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:72530800-72561200	Strong transcription	Adipose Nuclei	Adipose
3	chr15:72531000-72562400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:72531000-72563000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:72531000-72563000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:72531000-72563400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:72531200-72562800	Strong transcription	Fetal Muscle Leg	muscle
8	chr15:72531800-72561400	Strong transcription	Stomach Smooth Muscle	stomach
9	chr15:72532000-72562600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:72532200-72561000	Strong transcription	Liver	Liver
11	chr15:72532200-72561000	Strong transcription	Fetal Intestine Large	intestine
12	chr15:72532200-72561600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:72532200-72562200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:72532200-72563000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:72532400-72562600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:72532600-72562200	Strong transcription	Brain Anterior Caudate	brain
17	chr15:72532600-72562800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:72532800-72563000	Strong transcription	HSMM	muscle
19	chr15:72533000-72562000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr15:72533200-72562400	Strong transcription	Hela-S3	cervix
21	chr15:72533200-72562600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr15:72536600-72564000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr15:72537200-72564200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:72537600-72563400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr15:72538600-72561200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr15:72538800-72562000	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr15:72539000-72562200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:72539200-72562200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:72539400-72561200	Strong transcription	Left Ventricle	heart
30	chr15:72539400-72561600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr15:72539400-72562600	Strong transcription	Osteobl	bone
32	chr15:72539600-72561200	Strong transcription	Brain Germinal Matrix	brain
33	chr15:72539600-72562800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:72539800-72562800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr15:72540200-72560000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr15:72540200-72561400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr15:72540200-72561600	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:72540200-72561600	Strong transcription	HSMMtube	muscle
39	chr15:72540200-72562800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:72540200-72563200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr15:72540400-72560600	Strong transcription	Ovary	ovary
42	chr15:72540400-72561000	Strong transcription	Fetal Lung	lung
43	chr15:72540400-72561600	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr15:72540400-72562800	Strong transcription	A549	lung
45	chr15:72540400-72563400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr15:72540600-72560000	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr15:72540600-72560800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr15:72540600-72561000	Strong transcription	Lung	lung
49	chr15:72540600-72561400	Strong transcription	Placenta	Placenta
50	chr15:72540600-72561400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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