Variant report

Variant	rs8192362
Chromosome Location	chr15:72519858-72519859
allele	C/T
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	FOSL2	chr15:72518744-72520034	SK-N-SH	brain:	n/a	chr15:72519719-72519726 chr15:72519718-72519726 chr15:72519717-72519727 chr15:72519718-72519727
2	NFIC	chr15:72518931-72519865	GM12878	blood:	n/a	chr15:72519750-72519766 chr15:72519056-72519072 chr15:72519749-72519766
3	POLR2A	chr15:72518830-72519966	HCT-116	colon:	n/a	n/a
4	POLR2A	chr15:72518413-72522208	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:72517579-72524300	GM12892	blood:	n/a	n/a
6	NFATC1	chr15:72518907-72519957	GM12878	blood:	n/a	n/a
7	NFIC	chr15:72518814-72520012	GM12878	blood:	n/a	chr15:72519750-72519766 chr15:72519056-72519072 chr15:72519749-72519766
8	TAF1	chr15:72519629-72519897	GM12891	blood:	n/a	n/a
9	CTCF	chr15:72518870-72519966	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr15:72519855-72519875	MCF-7	breast:	n/a	n/a
11	EP300	chr15:72518713-72519975	A549	lung:	n/a	chr15:72519718-72519727 chr15:72519717-72519726
12	POLR2A	chr15:72517595-72520058	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr15:72518907-72519888	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr15:72518885-72519950	HCT-116	colon:	n/a	n/a
15	POLR2A	chr15:72517612-72524924	GM12892	blood:	n/a	n/a
16	STAT3	chr15:72519508-72519911	MCF10A-Er-Src	breast:	n/a	chr15:72519717-72519726 chr15:72519718-72519727
17	POLR2A	chr15:72518976-72519950	GM12892	blood:	n/a	n/a
18	POLR2A	chr15:72518950-72519969	GM19099	blood:	n/a	n/a
19	POLR2A	chr15:72518905-72519945	SK-N-MC	brain:	n/a	n/a
20	CEBPB	chr15:72518969-72519903	GM12878	blood:	n/a	n/a
21	JUND	chr15:72518870-72519916	A549	lung:	n/a	chr15:72519719-72519726 chr15:72519718-72519726 chr15:72519717-72519727 chr15:72519716-72519727 chr15:72519718-72519727
22	MXI1	chr15:72519031-72519872	Hela-S3	cervix:	n/a	n/a
23	SIN3AK20	chr15:72518898-72519877	A549	lung:	n/a	n/a
24	POLR2A	chr15:72517567-72525077	U87	brain:	n/a	n/a
25	FOS	chr15:72518672-72519966	MCF10A-Er-Src	breast:	n/a	chr15:72519719-72519726 chr15:72519718-72519726 chr15:72519717-72519727 chr15:72519716-72519727 chr15:72519718-72519727
26	POLR2A	chr15:72518858-72520051	Hela-S3	cervix:	n/a	n/a
27	TCF12	chr15:72518844-72519984	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr15:72518930-72519991	GM19193	blood:	n/a	n/a
29	BCLAF1	chr15:72518900-72519885	GM12878	blood:	n/a	chr15:72519718-72519727 chr15:72519073-72519086 chr15:72519717-72519726
30	POLR2A	chr15:72518895-72520057	GM12892	blood:	n/a	n/a
31	TBP	chr15:72519039-72519866	GM12878	blood:	n/a	n/a
32	KAP1	chr15:72519049-72519877	U2OS	brain:	n/a	chr15:72519719-72519728
33	POLR2A	chr15:72519047-72519908	GM15510	blood:	n/a	n/a
34	ATF2	chr15:72518910-72519932	GM12878	blood:	n/a	n/a
35	MTA3	chr15:72518920-72519879	GM12878	blood:	n/a	n/a
36	MAX	chr15:72518878-72519970	A549	lung:	n/a	chr15:72519717-72519726 chr15:72519718-72519727
37	CTCF	chr15:72518894-72519915	A549	lung:	n/a	n/a
38	POLR2A	chr15:72518869-72520047	GM12891	blood:	n/a	n/a
39	ATF2	chr15:72518894-72519881	GM12878	blood:	n/a	n/a
40	GATA2	chr15:72519492-72519892	HUVEC	blood vessel:	n/a	n/a
41	FOS	chr15:72518721-72519926	MCF10A-Er-Src	breast:	n/a	chr15:72519719-72519726 chr15:72519718-72519726 chr15:72519717-72519727 chr15:72519716-72519727 chr15:72519718-72519727
42	MYC	chr15:72518711-72519934	MCF10A-Er-Src	breast:	n/a	chr15:72519717-72519726 chr15:72519718-72519727
43	IRF4	chr15:72519012-72519870	GM12878	blood:	n/a	n/a
44	POLR2A	chr15:72519675-72519885	GM12878	blood:	n/a	n/a
45	POLR2A	chr15:72517696-72524637	GM12878	blood:	n/a	n/a
46	BCLAF1	chr15:72518836-72519968	GM12878	blood:	n/a	chr15:72519718-72519727 chr15:72519073-72519086 chr15:72519717-72519726
47	STAT3	chr15:72518894-72519917	MCF10A-Er-Src	breast:	n/a	chr15:72519717-72519726 chr15:72519318-72519326 chr15:72519718-72519727 chr15:72519416-72519424
48	JUND	chr15:72519480-72519891	Hela-S3	cervix:	n/a	chr15:72519719-72519726 chr15:72519718-72519726 chr15:72519717-72519727 chr15:72519716-72519727 chr15:72519718-72519727
49	TAF1	chr15:72519512-72519956	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr15:72518881-72519969	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72518397..72520643-chr15:72555836..72558368,2	K562	blood:
2	chr15:72519778..72525226-chr15:72547384..72553620,8	MCF-7	breast:
3	chr15:72409625..72411643-chr15:72517695..72521104,3	MCF-7	breast:
4	chr15:72518920..72521207-chr15:72667359..72669171,2	MCF-7	breast:
5	chr15:72519181..72521639-chr15:72766210..72768068,3	MCF-7	breast:
6	chr15:72519150..72522130-chr17:57913936..57915529,2	MCF-7	breast:
7	chr15:72519310..72525410-chr15:72562881..72568730,22	MCF-7	breast:
8	chr15:72518424..72531344-chr15:72562525..72571046,23	K562	blood:
9	chr15:72519248..72520809-chr5:61697872..61699713,2	MCF-7	breast:
10	chr15:72514333..72526693-chr15:72558323..72568559,52	MCF-7	breast:
11	chr15:72519045..72520714-chr15:72603580..72606385,2	K562	blood:
12	chr15:72509056..72514932-chr15:72519551..72525663,8	K562	blood:

Variant related genes	Relation type
PKM	TF binding region
ENSG00000166233	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000260729	Chromatin interaction
ENSG00000213614	Chromatin interaction
ENSG00000166192	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000260339	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000066933	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1000281	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1035744	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10851850	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11072349	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11072350	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11630170	0.85[EUR][1000 genomes]
rs11630611	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11633327	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11634622	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11637611	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11639282	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12442886	0.85[AMR][1000 genomes]
rs12904652	0.81[EUR][1000 genomes]
rs13858	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16956623	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2034879	0.80[AMR][1000 genomes]
rs2052713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2278987	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2415134	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2957742	0.80[AMR][1000 genomes]
rs35603965	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759900	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3759902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4454922	0.81[ASN][1000 genomes]
rs4506844	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55679065	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55763892	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59975112	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62022788	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62022789	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6494992	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6494997	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7162299	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7164780	0.81[ASN][1000 genomes]
rs7169264	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7170456	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7172158	0.81[ASN][1000 genomes]
rs7175197	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7175792	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7179427	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7179942	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7183810	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8023703	0.84[AMR][1000 genomes]
rs8023788	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8025939	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8027164	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8027647	0.92[EUR][1000 genomes]
rs8030815	0.81[ASN][1000 genomes]
rs8031386	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8032222	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8037381	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8038007	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8040828	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[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
rs8192362	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72511400-72521800	Weak transcription	Liver	Liver
2	chr15:72516600-72520000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr15:72517800-72520200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr15:72517800-72520200	Enhancers	Brain Cingulate Gyrus	brain
5	chr15:72517800-72520200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr15:72517800-72521000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:72517800-72521000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr15:72517800-72522600	Transcr. at gene 5' and 3'	A549	lung
9	chr15:72518000-72520200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:72518000-72520400	Enhancers	Fetal Muscle Leg	muscle
11	chr15:72518200-72520400	Enhancers	Primary B cells from peripheral blood	blood
12	chr15:72518400-72520200	Enhancers	Right Ventricle	heart
13	chr15:72518400-72520400	Enhancers	Fetal Brain Female	brain
14	chr15:72518400-72521000	Enhancers	Colonic Mucosa	Colon
15	chr15:72518400-72521600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:72518400-72521600	Enhancers	Fetal Intestine Large	intestine
17	chr15:72518400-72521800	Enhancers	Spleen	Spleen
18	chr15:72518600-72520200	Enhancers	Fetal Muscle Trunk	muscle
19	chr15:72518600-72520800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr15:72518600-72522200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr15:72518800-72520200	Genic enhancers	Fetal Stomach	stomach
22	chr15:72518800-72520400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:72518800-72520800	Flanking Active TSS	Osteobl	bone
24	chr15:72518800-72522600	Transcr. at gene 5' and 3'	Dnd41	blood
25	chr15:72519000-72520000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:72519000-72520000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:72519000-72520000	Flanking Active TSS	HepG2	liver
28	chr15:72519000-72520200	Enhancers	Fetal Brain Male	brain
29	chr15:72519000-72520600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:72519000-72520800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:72519000-72520800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:72519000-72520800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr15:72519000-72521000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr15:72519000-72521000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:72519000-72521000	Enhancers	Fetal Lung	lung
36	chr15:72519000-72521000	Enhancers	Stomach Mucosa	stomach
37	chr15:72519000-72521200	Enhancers	Small Intestine	intestine
38	chr15:72519000-72521800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr15:72519000-72522000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:72519000-72522400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr15:72519200-72520000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr15:72519200-72520000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr15:72519200-72520000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr15:72519200-72520000	Flanking Active TSS	K562	blood
45	chr15:72519200-72520600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr15:72519200-72521200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr15:72519200-72521200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr15:72519200-72522000	Flanking Active TSS	NHLF	lung
49	chr15:72519200-72522200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:72519400-72520200	Enhancers	Brain Anterior Caudate	brain

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