Variant report

Variant	rs16855950
Chromosome Location	chr3:144491347-144491348
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1512781	0.91[ASN][1000 genomes]
rs16855936	1.00[ASN][1000 genomes]
rs16855937	1.00[ASN][1000 genomes]
rs16855941	0.97[ASN][1000 genomes]
rs16855943	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16855946	0.91[JPT][hapmap]
rs16855955	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1916250	0.98[ASN][1000 genomes]
rs1916251	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs56380437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56807652	1.00[ASN][1000 genomes]
rs59664363	0.94[ASN][1000 genomes]
rs60322313	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60535604	0.98[ASN][1000 genomes]
rs60705164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61400914	0.91[ASN][1000 genomes]
rs61429069	0.91[ASN][1000 genomes]
rs61465948	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6440267	0.91[ASN][1000 genomes]
rs6771295	0.91[ASN][1000 genomes]
rs6782105	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6790055	1.00[ASN][1000 genomes]
rs6790749	1.00[ASN][1000 genomes]
rs6791002	1.00[ASN][1000 genomes]
rs6791012	1.00[ASN][1000 genomes]
rs6793649	0.91[ASN][1000 genomes]
rs6803084	1.00[ASN][1000 genomes]
rs73008056	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7340591	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73873579	0.98[ASN][1000 genomes]
rs7611272	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7615860	1.00[ASN][1000 genomes]
rs7630559	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7635998	0.95[ASN][1000 genomes]
rs7636179	0.95[ASN][1000 genomes]
rs7636248	0.95[ASN][1000 genomes]
rs7641230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7641244	0.98[ASN][1000 genomes]
rs7641516	0.98[ASN][1000 genomes]
rs7644542	0.90[JPT][hapmap]
rs7646035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7651550	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591928	chr3:144050897-144822081	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3357831	chr3:144433846-144790831	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3405013	chr3:144433866-144790801	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv829746	chr3:144451478-144618224	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv829747	chr3:144463330-144654092	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv999196	chr3:144487765-144529406	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv536755	chr3:144487765-144529406	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16855950	ZFYVE19	trans	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144487800-144492200	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr3:144489200-144491400	Enhancers	Brain Angular Gyrus	brain
3	chr3:144489200-144491400	Enhancers	Brain Anterior Caudate	brain
4	chr3:144489200-144491600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:144489200-144491600	Enhancers	Brain Hippocampus Middle	brain
6	chr3:144489200-144492400	Enhancers	Brain Cingulate Gyrus	brain
7	chr3:144489400-144491600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:144489400-144491600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr3:144489400-144492200	Enhancers	Brain Substantia Nigra	brain
10	chr3:144489400-144492200	Enhancers	Fetal Heart	heart
11	chr3:144489800-144492400	Enhancers	HUVEC	blood vessel
12	chr3:144490000-144491400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:144490000-144491600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:144490200-144492200	Enhancers	NHDF-Ad	bronchial
15	chr3:144490400-144491400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:144490400-144491400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:144490400-144491400	Enhancers	Fetal Lung	lung
18	chr3:144490600-144492600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:144490800-144491600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:144491000-144496800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:144491200-144491600	Enhancers	NHEK	skin
22	chr3:144491200-144493800	Weak transcription	Fetal Kidney	kidney

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