Variant report

Variant	rs61846915
Chromosome Location	chr10:51076618-51076619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10508917	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11592062	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11598461	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11598949	0.80[AFR][1000 genomes]
rs11599492	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11812185	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11813858	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12774346	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17719813	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17719843	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17719866	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17776131	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2377698	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34419748	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34714687	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35547965	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3877001	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4012652	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4285799	0.87[EUR][1000 genomes]
rs4495813	0.90[EUR][1000 genomes]
rs4592357	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4838566	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4838568	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs4838573	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4838575	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5013289	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61846922	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61846925	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61846931	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7067802	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7093312	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7921218	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758219	chr10:50971974-51925166	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	esv2759749	chr10:50971974-51925166	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv428232	chr10:50971974-51925166	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv895379	chr10:51022933-51187793	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv32940	chr10:51051718-51488059	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs61846915	AGAP6	cis	Thyroid	GTEx
rs61846915	AGAP6	cis	Skin Sun Exposed Lower leg	GTEx
rs61846915	AGAP6	cis	Esophagus Muscularis	GTEx
rs61846915	AGAP6	cis	Nerve Tibial	GTEx
rs61846915	AGAP6	cis	Esophagus Mucosa	GTEx
rs61846915	AGAP6	cis	Artery Tibial	GTEx
rs61846915	AGAP6	cis	lung	GTEx
rs61846915	AGAP6	cis	Adipose Subcutaneous	GTEx
rs61846915	AGAP6	cis	Whole Blood	GTEx
rs61846915	AGAP6	cis	Muscle Skeletal	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51051800-51102800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr10:51051800-51122000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr10:51052000-51093200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr10:51052200-51086600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:51052200-51094000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr10:51052200-51095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:51053400-51086600	Weak transcription	Dnd41	blood
8	chr10:51053400-51090400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:51053400-51096400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:51053600-51086000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:51053600-51092800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:51053600-51093000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr10:51068200-51086800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:51072800-51093000	Weak transcription	Liver	Liver
15	chr10:51074400-51093600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:51075400-51086600	Weak transcription	Ovary	ovary
17	chr10:51075600-51103400	Weak transcription	Fetal Intestine Large	intestine

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