Variant report

Variant	rs17669912
Chromosome Location	chr16:72346595-72346596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10153187	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10492819	0.89[ASN][1000 genomes]
rs10492821	0.84[ASN][1000 genomes]
rs10492822	0.84[ASN][1000 genomes]
rs12325146	0.82[ASN][1000 genomes]
rs12325151	0.82[ASN][1000 genomes]
rs1297137	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1429071	0.85[ASN][1000 genomes]
rs1437195	0.87[ASN][1000 genomes]
rs16970933	0.84[ASN][1000 genomes]
rs17608394	0.86[ASN][1000 genomes]
rs17609544	0.82[ASN][1000 genomes]
rs17609577	0.82[ASN][1000 genomes]
rs17609787	0.81[ASN][1000 genomes]
rs17609808	0.80[ASN][1000 genomes]
rs17676691	0.85[ASN][1000 genomes]
rs17676709	0.86[ASN][1000 genomes]
rs17677146	0.84[ASN][1000 genomes]
rs17677484	0.82[ASN][1000 genomes]
rs17677616	0.82[ASN][1000 genomes]
rs17677890	0.81[ASN][1000 genomes]
rs2262554	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2336437	0.86[ASN][1000 genomes]
rs55808336	0.81[ASN][1000 genomes]
rs56389222	0.82[ASN][1000 genomes]
rs57755001	0.80[ASN][1000 genomes]
rs58860566	0.81[ASN][1000 genomes]
rs59966262	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60502114	0.82[ASN][1000 genomes]
rs60731174	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60855478	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61475520	0.81[ASN][1000 genomes]
rs62051129	0.85[ASN][1000 genomes]
rs62051130	0.85[ASN][1000 genomes]
rs62051131	0.85[ASN][1000 genomes]
rs62051136	0.84[ASN][1000 genomes]
rs62051137	0.84[ASN][1000 genomes]
rs62051145	0.80[ASN][1000 genomes]
rs62051146	0.80[ASN][1000 genomes]
rs62051147	0.80[ASN][1000 genomes]
rs62051148	0.81[ASN][1000 genomes]
rs62051149	0.80[ASN][1000 genomes]
rs62052877	0.82[ASN][1000 genomes]
rs62052878	0.82[ASN][1000 genomes]
rs62052879	0.80[ASN][1000 genomes]
rs62052881	0.80[ASN][1000 genomes]
rs62052888	0.81[ASN][1000 genomes]
rs62052890	0.81[ASN][1000 genomes]
rs62052891	0.81[ASN][1000 genomes]
rs62052909	0.81[ASN][1000 genomes]
rs62052911	0.81[ASN][1000 genomes]
rs62053965	0.84[ASN][1000 genomes]
rs62053966	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62053968	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62053991	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62053992	0.80[AFR][1000 genomes]
rs62053995	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62053996	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62053997	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62053998	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7193177	0.81[ASN][1000 genomes]
rs7194024	0.84[ASN][1000 genomes]
rs7195825	0.84[ASN][1000 genomes]
rs7197154	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7198449	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7199954	0.84[ASN][1000 genomes]
rs7200367	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7200814	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7204260	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7205716	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7206298	0.82[ASN][1000 genomes]
rs72791149	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72793244	0.81[ASN][1000 genomes]
rs72793252	0.80[ASN][1000 genomes]
rs8047074	0.84[ASN][1000 genomes]
rs8056067	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8058832	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8063172	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs806732	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs806733	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs806738	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs806747	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1066473	chr16:72229094-72373598	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS 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	36 gene(s)	inside rSNPs	diseases
6	nsv1063172	chr16:72342110-72537808	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv542947	chr16:72342110-72537808	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1067525	chr16:72342110-72602796	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv542948	chr16:72342110-72602796	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72315600-72353600	Weak transcription	Dnd41	blood
2	chr16:72340000-72353000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr16:72343400-72353000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:72344400-72347000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:72345400-72347200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:72345400-72359400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:72345600-72346600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:72345600-72353000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:72345800-72346600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:72345800-72346800	Enhancers	Osteobl	bone
11	chr16:72346400-72346600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:72346400-72346600	Enhancers	Fetal Brain Female	brain
13	chr16:72346400-72346600	Enhancers	NHDF-Ad	bronchial
14	chr16:72346400-72346800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:72346400-72347000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr16:72346400-72347400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:72346400-72347400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:72346400-72347600	Enhancers	Cortex derived primary cultured neurospheres	brain

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