Variant report

Variant	rs4966606
Chromosome Location	chr16:46675045-46675046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:46663477..46665810-chr16:46674721..46676333,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10468399	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1651654	1.00[ASN][1000 genomes]
rs166161	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948661	1.00[ASN][1000 genomes]
rs17189741	1.00[ASN][1000 genomes]
rs17792604	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183672	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341041	1.00[ASN][1000 genomes]
rs252721	1.00[ASN][1000 genomes]
rs252722	1.00[ASN][1000 genomes]
rs28174	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28184	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28485103	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35444809	1.00[ASN][1000 genomes]
rs36310	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36312	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36462	1.00[ASN][1000 genomes]
rs36464	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36471	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36476	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36481	1.00[ASN][1000 genomes]
rs36483	1.00[ASN][1000 genomes]
rs40163	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40355	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41187	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141491	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs415018	1.00[ASN][1000 genomes]
rs420865	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4401068	1.00[ASN][1000 genomes]
rs4887592	1.00[ASN][1000 genomes]
rs4966616	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4967393	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59064826	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60500837	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66508669	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66804065	1.00[ASN][1000 genomes]
rs67205347	1.00[ASN][1000 genomes]
rs67506574	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67611436	1.00[ASN][1000 genomes]
rs67789219	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68074363	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs698418	1.00[ASN][1000 genomes]
rs700582	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712816	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186662	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187475	1.00[ASN][1000 genomes]
rs7190713	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197033	1.00[ASN][1000 genomes]
rs7198951	1.00[ASN][1000 genomes]
rs7205668	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814883	1.00[ASN][1000 genomes]
rs72816835	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816877	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794279	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8044684	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8045353	1.00[ASN][1000 genomes]
rs8046748	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051017	1.00[ASN][1000 genomes]
rs808434	1.00[ASN][1000 genomes]
rs808780	1.00[ASN][1000 genomes]
rs808783	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1066221	chr16:46463770-46699143	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1060734	chr16:46463770-46768102	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1064289	chr16:46463770-46801977	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
6	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	esv1797185	chr16:46489836-46731413	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
10	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	nsv916976	chr16:46505597-46801868	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv428327	chr16:46556968-46718490	Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv984334	chr16:46674416-46704148	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4966606	LOC388272	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46655600-46694200	Weak transcription	Right Ventricle	heart
2	chr16:46664000-46682800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr16:46664200-46683000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr16:46667400-46675800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr16:46667400-46683000	Weak transcription	Fetal Muscle Leg	muscle
6	chr16:46670000-46677800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:46672600-46691200	Weak transcription	Gastric	stomach
8	chr16:46673000-46683000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:46674200-46692800	Weak transcription	Ovary	ovary
10	chr16:46674400-46684000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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