Variant report

Variant	rs7169264
Chromosome Location	chr15:72540296-72540297
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72540043..72542185-chr15:72545080..72547358,2	K562	blood:
2	chr15:72525518..72527804-chr15:72539455..72542240,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137817	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1000281	0.85[EUR][1000 genomes]
rs1035744	0.83[EUR][1000 genomes]
rs1037680	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10851850	0.82[EUR][1000 genomes]
rs11072349	0.80[EUR][1000 genomes]
rs11072350	0.81[EUR][1000 genomes]
rs11072351	0.84[ASN][1000 genomes]
rs11633327	0.81[EUR][1000 genomes]
rs11634622	0.83[EUR][1000 genomes]
rs11637611	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11853101	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11858015	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12442886	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12591313	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12591338	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12898585	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12902661	0.80[ASN][1000 genomes]
rs12904652	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16953769	0.82[EUR][1000 genomes]
rs16956623	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16956634	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2052713	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2607090	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2856929	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2912231	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34189331	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35112434	0.82[EUR][1000 genomes]
rs35206011	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35603965	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3743224	0.80[EUR][1000 genomes]
rs3759902	0.80[AMR][1000 genomes]
rs3803471	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4506844	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4776589	0.84[ASN][1000 genomes]
rs55763892	0.85[EUR][1000 genomes]
rs62022788	0.84[EUR][1000 genomes]
rs62022789	0.83[EUR][1000 genomes]
rs6494997	0.83[EUR][1000 genomes]
rs713048	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7179427	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7179942	0.83[EUR][1000 genomes]
rs7182776	0.85[EUR][1000 genomes]
rs7183196	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7183810	0.84[EUR][1000 genomes]
rs72733369	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8023703	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8027647	0.82[EUR][1000 genomes]
rs8032222	0.82[EUR][1000 genomes]
rs8038007	0.83[EUR][1000 genomes]
rs8040828	0.83[EUR][1000 genomes]
rs8192362	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8192364	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8192386	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8192431	0.85[EUR][1000 genomes];0.82[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
rs7169264	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	chr15:72530400-72542200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:72530400-72563400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:72530600-72542000	Weak transcription	Stomach Mucosa	stomach
6	chr15:72530600-72545600	Weak transcription	Small Intestine	intestine
7	chr15:72530800-72561200	Strong transcription	Adipose Nuclei	Adipose
8	chr15:72531000-72562400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:72531000-72563000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:72531000-72563000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:72531000-72563400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:72531200-72562800	Strong transcription	Fetal Muscle Leg	muscle
13	chr15:72531400-72542000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:72531800-72561400	Strong transcription	Stomach Smooth Muscle	stomach
15	chr15:72532000-72543200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr15:72532000-72562600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:72532200-72561000	Strong transcription	Liver	Liver
18	chr15:72532200-72561000	Strong transcription	Fetal Intestine Large	intestine
19	chr15:72532200-72561600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:72532200-72562200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:72532200-72563000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:72532400-72540400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:72532400-72562600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:72532600-72562200	Strong transcription	Brain Anterior Caudate	brain
25	chr15:72532600-72562800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:72532800-72563000	Strong transcription	HSMM	muscle
27	chr15:72533000-72562000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr15:72533200-72562400	Strong transcription	Hela-S3	cervix
29	chr15:72533200-72562600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr15:72534400-72545800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr15:72534600-72544200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr15:72534800-72541400	Weak transcription	Colonic Mucosa	Colon
33	chr15:72534800-72541600	Weak transcription	Gastric	stomach
34	chr15:72535000-72541600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:72535200-72540600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr15:72535400-72541000	Weak transcription	Brain Substantia Nigra	brain
37	chr15:72535400-72541600	Weak transcription	Esophagus	oesophagus
38	chr15:72535400-72544000	Weak transcription	HUVEC	blood vessel
39	chr15:72535600-72540600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr15:72535600-72540600	Weak transcription	HMEC	breast
41	chr15:72535600-72541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:72535600-72541600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:72535800-72540600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr15:72535800-72541000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr15:72535800-72541600	Weak transcription	Right Ventricle	heart
46	chr15:72536200-72541200	Weak transcription	Spleen	Spleen
47	chr15:72536200-72541400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr15:72536200-72541800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr15:72536400-72540600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr15:72536400-72540600	Weak transcription	Lung	lung

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