Variant report

Variant	rs36114006
Chromosome Location	chr15:72467616-72467617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11072351	0.88[EUR][1000 genomes]
rs11853201	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11853994	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11858354	0.81[EUR][1000 genomes]
rs12916185	0.83[AFR][1000 genomes]
rs17741884	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17813866	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34539253	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35103604	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4776589	0.88[EUR][1000 genomes]
rs71395064	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8192399	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8192402	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs989328	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
rs36114006	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72454400-72471400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:72462000-72471400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr15:72463600-72472200	Weak transcription	Fetal Intestine Small	intestine
4	chr15:72465000-72476200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr15:72466000-72470200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:72466600-72469000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:72466600-72471200	Enhancers	Placenta	Placenta
8	chr15:72466600-72472400	Enhancers	HMEC	breast
9	chr15:72466800-72467800	Enhancers	NHEK	skin
10	chr15:72466800-72468000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:72466800-72468400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:72466800-72476200	Weak transcription	Esophagus	oesophagus
13	chr15:72467200-72468400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:72467200-72469600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr15:72467400-72467800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:72467600-72467800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:72467600-72468000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:72467600-72471600	Weak transcription	Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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