Variant report

Variant	rs8023703
Chromosome Location	chr15:72504059-72504060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72503934-72504104	A549	lung:	n/a	n/a
2	POLR2A	chr15:72503629-72505268	U87	brain:	n/a	n/a
3	POLR2A	chr15:72503838-72504358	HL-60	blood:	n/a	n/a
4	POLR2A	chr15:72503909-72504149	A549	lung:	n/a	n/a
5	POLR2A	chr15:72503920-72504156	MCF-7	breast:	n/a	n/a
6	POLR2A	chr15:72503712-72504408	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr15:72503769-72504398	A549	lung:	n/a	n/a
8	POLR2A	chr15:72503871-72504468	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr15:72503687-72504496	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr15:72503971-72504259	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:72501829-72505454	HepG2	liver:	n/a	n/a
12	POLR2A	chr15:72501810-72505237	U87	brain:	n/a	n/a
13	POLR2A	chr15:72503611-72504475	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr15:72503970-72504114	A549	lung:	n/a	n/a
15	POLR2A	chr15:72503629-72505181	U87	brain:	n/a	n/a
16	POLR2A	chr15:72503702-72504522	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr15:72503613-72504110	HepG2	liver:	n/a	n/a
18	POLR2A	chr15:72503666-72505119	GM12891	blood:	n/a	n/a
19	POLR2A	chr15:72503776-72504233	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr15:72501810-72525301	U87	brain:	n/a	n/a
21	POLR2A	chr15:72503893-72504536	K562	blood:	n/a	n/a
22	POLR2A	chr15:72503670-72504416	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72502911..72505667-chr15:72507243..72510993,3	MCF-7	breast:
2	chr15:72503871..72506104-chr15:72519386..72521309,2	K562	blood:
3	chr15:72497368..72499511-chr15:72501024..72504196,4	K562	blood:
4	chr15:72502909..72504752-chr15:72511808..72513368,2	K562	blood:

No data

Variant related genes	Relation type
PKM	TF binding region
ENSG00000067225	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1037680	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518979	0.80[ASN][1000 genomes]
rs1074330	0.80[ASN][1000 genomes]
rs11072346	0.83[ASN][1000 genomes]
rs11072351	0.97[ASN][1000 genomes]
rs11852789	0.80[ASN][1000 genomes]
rs11853101	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11858015	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12050895	0.83[ASN][1000 genomes]
rs12439900	0.81[ASN][1000 genomes]
rs12442886	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12591313	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12591338	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12591426	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12592044	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12593908	0.83[ASN][1000 genomes]
rs12898585	0.83[ASN][1000 genomes]
rs12901886	0.84[ASN][1000 genomes]
rs12902006	0.80[ASN][1000 genomes]
rs12902661	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12904652	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12908882	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12916951	0.81[ASN][1000 genomes]
rs16953769	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16956444	0.80[ASN][1000 genomes]
rs16956634	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2052713	0.84[AMR][1000 genomes]
rs2415134	0.86[AMR][1000 genomes]
rs2607090	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2856929	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2912231	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34487006	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35112434	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35167572	0.80[ASN][1000 genomes]
rs35206011	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35603965	0.83[AMR][1000 genomes]
rs35673773	0.81[ASN][1000 genomes]
rs35713471	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3743224	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3759900	0.83[AMR][1000 genomes]
rs3759902	0.84[AMR][1000 genomes]
rs3803471	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4131630	0.80[ASN][1000 genomes]
rs4238449	0.85[ASN][1000 genomes]
rs4411469	0.85[ASN][1000 genomes]
rs4445848	0.80[ASN][1000 genomes]
rs4506844	0.84[AMR][1000 genomes]
rs4776586	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4776589	0.94[ASN][1000 genomes]
rs4777477	0.80[ASN][1000 genomes]
rs4777478	0.80[ASN][1000 genomes]
rs4777484	0.80[ASN][1000 genomes]
rs4777489	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55854204	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60921026	0.88[ASN][1000 genomes]
rs713048	0.85[ASN][1000 genomes]
rs7169264	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7170456	0.82[AMR][1000 genomes]
rs7172309	0.80[ASN][1000 genomes]
rs7175197	0.80[AMR][1000 genomes]
rs7179427	0.83[AMR][1000 genomes]
rs7182776	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7183196	0.85[ASN][1000 genomes]
rs7183749	0.80[ASN][1000 genomes]
rs72733369	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8023788	0.80[AMR][1000 genomes]
rs8025939	0.80[AMR][1000 genomes]
rs8032222	0.82[AMR][1000 genomes]
rs8040828	0.86[AMR][1000 genomes]
rs8192362	0.84[AMR][1000 genomes]
rs8192364	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8192386	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8192431	0.88[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	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	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	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
4	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
rs8023703	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	chr15:72490000-72507600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:72490400-72512000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr15:72490600-72508200	Strong transcription	Primary T helper cells PMA-I stimulated	--
4	chr15:72490600-72512000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr15:72490600-72513000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr15:72490600-72513200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr15:72490600-72513600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:72490600-72513800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:72490600-72515600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:72490600-72518000	Strong transcription	Dnd41	blood
11	chr15:72490800-72504400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:72490800-72504400	Strong transcription	Colonic Mucosa	Colon
13	chr15:72490800-72511800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr15:72490800-72511800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr15:72490800-72511800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:72490800-72512200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr15:72490800-72513000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr15:72490800-72513000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:72490800-72514200	Strong transcription	Primary T cells from cord blood	blood
20	chr15:72490800-72514400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr15:72490800-72518400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:72491000-72504800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:72491000-72504800	Strong transcription	Aorta	Aorta
24	chr15:72491000-72511600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:72491000-72512200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:72491000-72512200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr15:72491000-72512600	Strong transcription	Primary hematopoietic stem cells	blood
28	chr15:72491000-72512600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr15:72491000-72513000	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr15:72491000-72513400	Strong transcription	Fetal Lung	lung
31	chr15:72491000-72513600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr15:72491000-72513600	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr15:72491000-72513800	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr15:72491000-72513800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr15:72491000-72514600	Strong transcription	K562	blood
36	chr15:72491200-72512000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:72491200-72512000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr15:72491200-72512800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr15:72491200-72513000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:72491400-72511600	Strong transcription	Ovary	ovary
41	chr15:72491400-72512400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr15:72491600-72511200	Strong transcription	GM12878-XiMat	blood
43	chr15:72491600-72511800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr15:72491600-72513600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:72491800-72511600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr15:72491800-72513200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:72492200-72514000	Strong transcription	Placenta	Placenta
48	chr15:72492200-72514200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr15:72492400-72511800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr15:72492400-72513800	Strong transcription	Rectal Mucosa Donor 31	rectum

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