Variant report

Variant	rs11072351
Chromosome Location	chr15:72528532-72528533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72528472-72530468	U87	brain:	n/a	n/a
2	POLR2A	chr15:72528532-72528549	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72526714..72532102-chr15:72561781..72566953,8	K562	blood:
2	chr15:72528324..72530609-chr15:72547356..72549474,2	MCF-7	breast:
3	chr15:72527394..72534715-chr15:72562814..72566489,12	MCF-7	breast:
4	chr15:72518424..72531344-chr15:72562525..72571046,23	K562	blood:
5	chr15:72527933..72532527-chr15:72562459..72567122,12	MCF-7	breast:

No data

Variant related genes	Relation type
PKM	TF binding region
ENSG00000137817	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1037680	0.97[ASN][1000 genomes]
rs11072346	0.83[ASN][1000 genomes]
rs11853101	0.95[ASN][1000 genomes]
rs11858015	0.96[ASN][1000 genomes]
rs12050895	0.81[ASN][1000 genomes]
rs12442886	0.81[ASN][1000 genomes]
rs12591313	0.97[ASN][1000 genomes]
rs12591338	0.97[ASN][1000 genomes]
rs12591426	0.84[ASN][1000 genomes]
rs12592044	0.80[ASN][1000 genomes]
rs12593908	0.83[ASN][1000 genomes]
rs12898585	0.81[ASN][1000 genomes]
rs12901886	0.84[ASN][1000 genomes]
rs12902661	0.94[ASN][1000 genomes]
rs12904652	0.85[ASN][1000 genomes]
rs12908882	0.86[ASN][1000 genomes]
rs16953769	0.88[ASN][1000 genomes]
rs16956634	0.97[ASN][1000 genomes]
rs17741884	0.81[EUR][1000 genomes]
rs2607090	0.98[ASN][1000 genomes]
rs2856929	0.96[ASN][1000 genomes]
rs2912231	0.92[ASN][1000 genomes]
rs34487006	0.88[ASN][1000 genomes]
rs34539253	0.90[EUR][1000 genomes]
rs35103604	0.88[EUR][1000 genomes]
rs35112434	0.86[ASN][1000 genomes]
rs35167572	0.80[ASN][1000 genomes]
rs35206011	0.97[ASN][1000 genomes]
rs35673773	0.81[ASN][1000 genomes]
rs35713471	0.88[ASN][1000 genomes]
rs36114006	0.88[EUR][1000 genomes]
rs3743224	0.89[ASN][1000 genomes]
rs3803471	0.97[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]
rs4776586	0.85[ASN][1000 genomes]
rs4776589	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4777478	0.80[ASN][1000 genomes]
rs4777484	0.80[ASN][1000 genomes]
rs4777489	0.85[ASN][1000 genomes]
rs4777500	0.82[EUR][1000 genomes]
rs55854204	0.86[ASN][1000 genomes]
rs60921026	0.88[ASN][1000 genomes]
rs713048	0.85[ASN][1000 genomes]
rs71395064	0.88[EUR][1000 genomes]
rs7169264	0.84[ASN][1000 genomes]
rs7172309	0.80[ASN][1000 genomes]
rs7182776	0.85[ASN][1000 genomes]
rs7183196	0.85[ASN][1000 genomes]
rs7183749	0.80[ASN][1000 genomes]
rs72733369	0.93[ASN][1000 genomes]
rs8023703	0.97[ASN][1000 genomes]
rs8192364	0.97[ASN][1000 genomes]
rs8192386	0.98[ASN][1000 genomes]
rs8192399	0.90[EUR][1000 genomes]
rs8192402	0.90[EUR][1000 genomes]
rs8192431	0.96[ASN][1000 genomes]
rs989328	0.81[EUR][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
rs11072351	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72524400-72529200	Weak transcription	Esophagus	oesophagus
2	chr15:72524400-72529600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:72524400-72529800	Weak transcription	Lung	lung
4	chr15:72524400-72532000	Weak transcription	Brain Angular Gyrus	brain
5	chr15:72524400-72533000	Weak transcription	Gastric	stomach
6	chr15:72524400-72533200	Weak transcription	Ovary	ovary
7	chr15:72524400-72533400	Weak transcription	Pancreas	Pancrea
8	chr15:72524600-72529200	Weak transcription	Right Atrium	heart
9	chr15:72524600-72532200	Weak transcription	Liver	Liver
10	chr15:72524600-72532600	Weak transcription	Right Ventricle	heart
11	chr15:72524600-72533000	Weak transcription	Aorta	Aorta
12	chr15:72524800-72528800	Weak transcription	Fetal Brain Female	brain
13	chr15:72524800-72529000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr15:72524800-72529400	Weak transcription	Brain Hippocampus Middle	brain
15	chr15:72524800-72533000	Weak transcription	Thymus	Thymus
16	chr15:72524800-72533400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr15:72524800-72533400	Weak transcription	Brain Substantia Nigra	brain
18	chr15:72524800-72533600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr15:72524800-72551400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:72525000-72529000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr15:72525000-72529000	Weak transcription	Primary B cells from cord blood	blood
22	chr15:72525000-72529000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:72525000-72529200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:72525000-72529400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr15:72525000-72529600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr15:72525000-72531000	Weak transcription	Brain Anterior Caudate	brain
27	chr15:72525000-72532800	Weak transcription	Brain Germinal Matrix	brain
28	chr15:72525000-72533000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr15:72525000-72533400	Weak transcription	Colon Smooth Muscle	Colon
30	chr15:72525000-72533400	Weak transcription	Fetal Kidney	kidney
31	chr15:72525000-72533400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr15:72525200-72528600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr15:72525200-72528800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:72525200-72529000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:72525200-72529000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr15:72525200-72529000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:72525200-72529000	Weak transcription	Spleen	Spleen
38	chr15:72525200-72529200	Weak transcription	Fetal Stomach	stomach
39	chr15:72525200-72529200	Weak transcription	Fetal Thymus	thymus
40	chr15:72525200-72529400	Weak transcription	Adipose Nuclei	Adipose
41	chr15:72525200-72529400	Weak transcription	Psoas Muscle	Psoas
42	chr15:72525200-72529600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr15:72525200-72532000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr15:72525200-72532200	Weak transcription	Fetal Intestine Large	intestine
45	chr15:72525200-72533000	Weak transcription	Fetal Brain Male	brain
46	chr15:72525200-72533000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr15:72525200-72533200	Weak transcription	Fetal Intestine Small	intestine
48	chr15:72525400-72528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:72525400-72528600	Enhancers	Hela-S3	cervix
50	chr15:72525400-72528600	Weak transcription	HMEC	breast

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