Variant report

Variant	rs2723356
Chromosome Location	chr15:72113528-72113529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11072332	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11072339	0.80[AMR][1000 genomes]
rs12899485	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12903980	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12906711	0.86[AMR][1000 genomes]
rs12911154	0.86[AMR][1000 genomes]
rs12913042	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12917428	0.86[AMR][1000 genomes]
rs1384007	0.85[AMR][1000 genomes]
rs16956241	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16956302	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16956328	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16956381	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2054601	0.81[EUR][1000 genomes]
rs2246225	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2291278	0.96[ASN][1000 genomes]
rs2306490	0.86[AMR][1000 genomes]
rs2625529	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2625530	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2723342	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2723343	0.89[AFR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2742323	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2899773	0.81[EUR][1000 genomes]
rs34085279	0.81[AMR][1000 genomes]
rs34514871	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35021156	0.89[AMR][1000 genomes]
rs4238447	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4776579	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4776581	0.86[AMR][1000 genomes]
rs4777464	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4777467	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4777469	0.81[EUR][1000 genomes]
rs4777471	0.84[AMR][1000 genomes]
rs62023342	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62025574	0.86[AMR][1000 genomes]
rs71395051	0.81[AMR][1000 genomes]
rs7170461	0.86[AMR][1000 genomes]
rs7170754	0.86[AMR][1000 genomes]
rs8747	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9120	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs972028	0.83[EUR][1000 genomes]
rs972029	0.83[EUR][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	nsv904334	chr15:71737376-72177659	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2723356	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72100600-72113800	Weak transcription	Fetal Lung	lung
2	chr15:72103400-72114000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:72106000-72114200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr15:72106200-72113800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:72106800-72114400	Weak transcription	Fetal Kidney	kidney
6	chr15:72107200-72115200	Weak transcription	Fetal Stomach	stomach
7	chr15:72107800-72115600	Weak transcription	Fetal Heart	heart
8	chr15:72108000-72118600	Weak transcription	Fetal Brain Female	brain
9	chr15:72108600-72120600	Weak transcription	Fetal Brain Male	brain
10	chr15:72110000-72113800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:72110600-72118200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:72110800-72116400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:72110800-72122800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:72111000-72114000	Strong transcription	Fetal Muscle Leg	muscle
15	chr15:72111400-72114000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr15:72111600-72116600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
17	chr15:72111800-72116400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:72112000-72115800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:72112000-72116200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr15:72112200-72114000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:72112200-72119200	ZNF genes & repeats	A549	lung
22	chr15:72112400-72114000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:72112400-72114200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:72112400-72114600	ZNF genes & repeats	HSMMtube	muscle
25	chr15:72112600-72114200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:72112600-72114800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:72112800-72114200	Weak transcription	Brain Germinal Matrix	brain
28	chr15:72112800-72118000	ZNF genes & repeats	Liver	Liver
29	chr15:72113000-72114200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr15:72113000-72115400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:72113000-72116000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:72113000-72118600	Weak transcription	Colon Smooth Muscle	Colon
33	chr15:72113000-72118800	Weak transcription	Dnd41	blood
34	chr15:72113200-72113600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:72113200-72114000	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links