Variant report

Variant	rs12324286
Chromosome Location	chr15:72568430-72568431
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	POLR2A	chr15:72568386-72568678	H1-neurons	neurons:	n/a	n/a

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:

Variant related genes	Relation type
PARP6	TF binding region
ENSG00000261460	TF binding region
ENSG00000067225	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

Variant overlapped rSNPs/rCNVs (count:18 , 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
6	esv1918298	chr15:72568107-72568564	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
7	esv3520680	chr15:72568124-72568530	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
8	esv3520682	chr15:72568140-72568505	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	esv3520681	chr15:72568143-72568443	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	esv3520678	chr15:72568148-72568462	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
11	esv3311412	chr15:72568159-72568474	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
12	esv3311413	chr15:72568176-72568438	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
13	esv3520679	chr15:72568178-72568499	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
14	esv9307	chr15:72568181-72568494	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
15	esv4690	chr15:72568188-72568525	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
16	esv3311414	chr15:72568202-72568459	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
17	esv3520683	chr15:72568202-72568459	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
18	esv1016655	chr15:72568266-72568458	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12324286	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	chr15:72565800-72572600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr15:72566000-72568600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:72566000-72568800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:72566000-72571000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr15:72566000-72573600	Weak transcription	Brain Anterior Caudate	brain
7	chr15:72566000-72573600	Weak transcription	Brain Substantia Nigra	brain
8	chr15:72566000-72575800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:72566000-72576400	Weak transcription	Colon Smooth Muscle	Colon
10	chr15:72566000-72577800	Weak transcription	Fetal Intestine Small	intestine
11	chr15:72566000-72582400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr15:72566000-72611400	Weak transcription	Right Ventricle	heart
13	chr15:72566200-72573000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:72566200-72573600	Weak transcription	Brain Hippocampus Middle	brain
15	chr15:72566200-72577000	Weak transcription	Ovary	ovary
16	chr15:72566200-72577600	Weak transcription	Brain Angular Gyrus	brain
17	chr15:72566200-72578400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:72566200-72579200	Weak transcription	Primary T cells from cord blood	blood
19	chr15:72566400-72573600	Weak transcription	K562	blood
20	chr15:72567000-72611800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:72567400-72569000	Enhancers	HSMMtube	muscle
22	chr15:72567600-72569200	Enhancers	HSMM	muscle
23	chr15:72567800-72568800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr15:72567800-72581400	Weak transcription	Fetal Muscle Leg	muscle
25	chr15:72568400-72569200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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