Variant report

Variant	rs713048
Chromosome Location	chr15:72543084-72543085
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	EGR1	chr15:72543030-72543321	K562	blood:	n/a	chr15:72543141-72543154 chr15:72543140-72543155 chr15:72543141-72543154 chr15:72543141-72543154

No.	Distal block	Cell Line	Cell type
1	chr15:72520952..72523242-chr15:72542014..72544162,2	K562	blood:
2	chr15:72542420..72544885-chr15:72551615..72554106,2	K562	blood:
3	chr15:72520927..72524574-chr15:72541674..72546336,5	MCF-7	breast:
4	chr15:72541554..72543753-chr15:72562332..72564348,2	K562	blood:
5	chr15:72540888..72544821-chr15:72560401..72563677,4	MCF-7	breast:

Variant related genes	Relation type
PARP6	TF binding region
ENSG00000067225	Chromatin interaction
ENSG00000137817	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1000281	0.89[CEU][hapmap]
rs1035744	0.89[CEU][hapmap]
rs1037680	0.87[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10851850	0.89[CEU][hapmap]
rs11072351	0.85[ASN][1000 genomes]
rs11637611	0.89[CEU][hapmap]
rs11853101	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11858015	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12442886	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12591313	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12591338	0.94[CEU][hapmap];0.83[CHB][hapmap];0.82[YRI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12591426	0.83[EUR][1000 genomes]
rs12592044	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs12898585	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12901886	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs12902661	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12904652	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16953769	0.87[EUR][1000 genomes]
rs16956623	0.84[CEU][hapmap]
rs16956634	0.94[CEU][hapmap];0.83[CHB][hapmap];0.89[YRI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2607090	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2856929	0.87[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2912231	0.94[CEU][hapmap];0.87[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34189331	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34487006	0.83[EUR][1000 genomes]
rs35112434	0.87[EUR][1000 genomes]
rs35186252	0.80[EUR][1000 genomes]
rs35206011	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35713471	0.83[EUR][1000 genomes]
rs3743224	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs3803471	0.87[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4776586	0.82[CEU][hapmap];0.83[CHB][hapmap];0.83[EUR][1000 genomes]
rs4776589	0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs55854204	0.83[EUR][1000 genomes]
rs6494997	0.89[CEU][hapmap]
rs7169264	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7172309	0.82[CEU][hapmap]
rs7182776	0.82[CEU][hapmap]
rs7183196	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733369	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8023703	0.85[ASN][1000 genomes]
rs8040828	0.89[CEU][hapmap]
rs8192364	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8192386	0.94[CEU][hapmap];0.83[CHB][hapmap];0.89[YRI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8192431	0.94[CEU][hapmap];0.83[CHB][hapmap];0.89[YRI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs713048	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72524800-72551400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:72525400-72548600	Weak transcription	Fetal Heart	heart
3	chr15:72530400-72563400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:72530600-72545600	Weak transcription	Small Intestine	intestine
5	chr15:72530800-72561200	Strong transcription	Adipose Nuclei	Adipose
6	chr15:72531000-72562400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:72531000-72563000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:72531000-72563000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:72531000-72563400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:72531200-72562800	Strong transcription	Fetal Muscle Leg	muscle
11	chr15:72531800-72561400	Strong transcription	Stomach Smooth Muscle	stomach
12	chr15:72532000-72543200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr15:72532000-72562600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:72532200-72561000	Strong transcription	Liver	Liver
15	chr15:72532200-72561000	Strong transcription	Fetal Intestine Large	intestine
16	chr15:72532200-72561600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:72532200-72562200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:72532200-72563000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:72532400-72562600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:72532600-72562200	Strong transcription	Brain Anterior Caudate	brain
21	chr15:72532600-72562800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:72532800-72563000	Strong transcription	HSMM	muscle
23	chr15:72533000-72562000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr15:72533200-72562400	Strong transcription	Hela-S3	cervix
25	chr15:72533200-72562600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr15:72534400-72545800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr15:72534600-72544200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr15:72535400-72544000	Weak transcription	HUVEC	blood vessel
29	chr15:72536600-72564000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr15:72537200-72564200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr15:72537600-72563400	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:72538600-72561200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr15:72538800-72544200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr15:72538800-72562000	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr15:72539000-72562200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:72539200-72549800	Strong transcription	Fetal Intestine Small	intestine
37	chr15:72539200-72550200	Strong transcription	Fetal Stomach	stomach
38	chr15:72539200-72556600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr15:72539200-72562200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr15:72539400-72553400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr15:72539400-72561200	Strong transcription	Left Ventricle	heart
42	chr15:72539400-72561600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:72539400-72562600	Strong transcription	Osteobl	bone
44	chr15:72539600-72561200	Strong transcription	Brain Germinal Matrix	brain
45	chr15:72539600-72562800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:72539800-72562800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr15:72540000-72547000	Strong transcription	GM12878-XiMat	blood
48	chr15:72540200-72547600	Strong transcription	Primary hematopoietic stem cells	blood
49	chr15:72540200-72547600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr15:72540200-72547600	Strong transcription	NHDF-Ad	bronchial

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