Variant report

Variant	rs11633327
Chromosome Location	chr15:72561629-72561630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:72514333..72526693-chr15:72558323..72568559,52	MCF-7	breast:
2	chr15:72522943..72525408-chr15:72560443..72562421,3	MCF-7	breast:
3	chr15:72548498..72554612-chr15:72558312..72566000,13	MCF-7	breast:
4	chr15:72549975..72552045-chr15:72561335..72563310,2	K562	blood:
5	chr15:72561194..72564093-chr15:72666798..72669351,2	MCF-7	breast:
6	chr15:72540888..72544821-chr15:72560401..72563677,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137817	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000213614	Chromatin interaction
ENSG00000260729	Chromatin interaction
ENSG00000260339	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1000281	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1035744	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10851850	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11072349	0.87[EUR][1000 genomes]
rs11072350	0.89[EUR][1000 genomes]
rs11630170	0.85[EUR][1000 genomes]
rs11630611	0.83[EUR][1000 genomes]
rs11634622	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11637611	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12904652	0.81[EUR][1000 genomes]
rs16956623	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2052713	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2415134	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35603965	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3759900	0.80[EUR][1000 genomes]
rs3759902	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4506844	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55763892	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62022788	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62022789	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6494992	0.81[EUR][1000 genomes]
rs6494997	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169264	0.81[EUR][1000 genomes]
rs7170456	0.85[EUR][1000 genomes]
rs7175197	0.86[EUR][1000 genomes]
rs7179427	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7179942	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7183810	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8023788	0.86[EUR][1000 genomes]
rs8025939	0.86[EUR][1000 genomes]
rs8027647	0.95[EUR][1000 genomes]
rs8032222	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8038007	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8040828	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8192362	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[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	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
4	nsv1601	chr15:72549885-72585176	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11633327	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72530400-72563400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:72531000-72562400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr15:72531000-72563000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:72531000-72563000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:72531000-72563400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:72531200-72562800	Strong transcription	Fetal Muscle Leg	muscle
7	chr15:72532000-72562600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:72532200-72562200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:72532200-72563000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:72532400-72562600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:72532600-72562200	Strong transcription	Brain Anterior Caudate	brain
12	chr15:72532600-72562800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:72532800-72563000	Strong transcription	HSMM	muscle
14	chr15:72533000-72562000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr15:72533200-72562400	Strong transcription	Hela-S3	cervix
16	chr15:72533200-72562600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr15:72536600-72564000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr15:72537200-72564200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:72537600-72563400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:72538800-72562000	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr15:72539000-72562200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:72539200-72562200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:72539400-72562600	Strong transcription	Osteobl	bone
24	chr15:72539600-72562800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:72539800-72562800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr15:72540200-72562800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:72540200-72563200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:72540400-72562800	Strong transcription	A549	lung
29	chr15:72540400-72563400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr15:72540600-72562000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr15:72540600-72562000	Strong transcription	Colon Smooth Muscle	Colon
32	chr15:72540600-72562200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:72540600-72562200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr15:72540600-72562200	Strong transcription	Brain Hippocampus Middle	brain
35	chr15:72540600-72562600	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr15:72540600-72562600	Strong transcription	Fetal Brain Female	brain
37	chr15:72540800-72562600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr15:72541400-72562800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:72542400-72562200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr15:72544600-72562200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:72551800-72563200	Strong transcription	Fetal Stomach	stomach
42	chr15:72556000-72562800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr15:72557000-72563200	Strong transcription	NHEK	skin
44	chr15:72557400-72562200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:72557400-72562200	Strong transcription	Fetal Intestine Small	intestine
46	chr15:72557400-72563000	Weak transcription	Fetal Heart	heart
47	chr15:72558200-72563000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr15:72559200-72563000	Weak transcription	Fetal Brain Male	brain
49	chr15:72559200-72563400	Weak transcription	HUVEC	blood vessel
50	chr15:72559400-72564200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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