Variant report

Variant	rs72791149
Chromosome Location	chr16:72367203-72367204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10153187	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10492819	0.80[ASN][1000 genomes]
rs10492821	0.90[ASN][1000 genomes]
rs10492822	0.90[ASN][1000 genomes]
rs12325146	0.88[ASN][1000 genomes]
rs12325151	0.88[ASN][1000 genomes]
rs1297137	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1429071	0.93[ASN][1000 genomes]
rs16970855	0.82[AFR][1000 genomes]
rs16970933	0.90[ASN][1000 genomes]
rs17607347	0.83[AFR][1000 genomes]
rs17608394	0.92[ASN][1000 genomes]
rs17608557	0.80[ASN][1000 genomes]
rs17609544	0.88[ASN][1000 genomes]
rs17609577	0.88[ASN][1000 genomes]
rs17609787	0.87[ASN][1000 genomes]
rs17609808	0.88[ASN][1000 genomes]
rs17669912	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17676691	0.91[ASN][1000 genomes]
rs17676709	0.92[ASN][1000 genomes]
rs17677146	0.90[ASN][1000 genomes]
rs17677484	0.88[ASN][1000 genomes]
rs17677616	0.88[ASN][1000 genomes]
rs17677890	0.87[ASN][1000 genomes]
rs2262554	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2336437	0.92[ASN][1000 genomes]
rs55808336	0.87[ASN][1000 genomes]
rs56232073	0.92[AFR][1000 genomes]
rs56348767	0.86[ASN][1000 genomes]
rs56389222	0.88[ASN][1000 genomes]
rs57220817	0.83[ASN][1000 genomes]
rs57755001	0.88[ASN][1000 genomes]
rs58549165	0.87[ASN][1000 genomes]
rs58745414	0.87[ASN][1000 genomes]
rs58860566	0.87[ASN][1000 genomes]
rs59966262	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60502114	0.88[ASN][1000 genomes]
rs60731174	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60855478	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61475520	0.87[ASN][1000 genomes]
rs62051129	0.93[ASN][1000 genomes]
rs62051130	0.93[ASN][1000 genomes]
rs62051131	0.93[ASN][1000 genomes]
rs62051136	0.90[ASN][1000 genomes]
rs62051137	0.90[ASN][1000 genomes]
rs62051145	0.88[ASN][1000 genomes]
rs62051146	0.88[ASN][1000 genomes]
rs62051147	0.88[ASN][1000 genomes]
rs62051148	0.87[ASN][1000 genomes]
rs62051149	0.88[ASN][1000 genomes]
rs62051150	0.86[ASN][1000 genomes]
rs62051151	0.86[ASN][1000 genomes]
rs62052871	0.85[ASN][1000 genomes]
rs62052877	0.88[ASN][1000 genomes]
rs62052878	0.88[ASN][1000 genomes]
rs62052879	0.86[ASN][1000 genomes]
rs62052881	0.86[ASN][1000 genomes]
rs62052888	0.87[ASN][1000 genomes]
rs62052890	0.87[ASN][1000 genomes]
rs62052891	0.87[ASN][1000 genomes]
rs62052894	0.83[ASN][1000 genomes]
rs62052895	0.87[ASN][1000 genomes]
rs62052909	0.87[ASN][1000 genomes]
rs62052911	0.87[ASN][1000 genomes]
rs62052915	0.86[ASN][1000 genomes]
rs62052920	0.82[ASN][1000 genomes]
rs62052921	0.82[ASN][1000 genomes]
rs62052927	0.82[ASN][1000 genomes]
rs62053965	0.83[ASN][1000 genomes]
rs62053966	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62053968	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62053991	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62053995	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62053996	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62053997	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62053998	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6499569	0.83[AFR][1000 genomes]
rs7193177	0.87[ASN][1000 genomes]
rs7194024	0.90[ASN][1000 genomes]
rs7195825	0.90[ASN][1000 genomes]
rs7197154	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7198449	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7199954	0.90[ASN][1000 genomes]
rs7200367	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7200814	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7204260	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7205716	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7206298	0.90[ASN][1000 genomes]
rs72793244	0.87[ASN][1000 genomes]
rs72793252	0.86[ASN][1000 genomes]
rs72793263	0.87[ASN][1000 genomes]
rs72793266	0.81[ASN][1000 genomes]
rs8047074	0.83[ASN][1000 genomes]
rs8050066	0.84[AFR][1000 genomes]
rs8056067	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8058832	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8063172	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs806732	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs806733	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs806738	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs806747	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv1867	chr16:72352262-72397339	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72354200-72368400	Weak transcription	HepG2	liver
2	chr16:72354200-72368600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr16:72362200-72368200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:72365600-72368200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:72366000-72367400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:72366800-72367400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:72366800-72367400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:72366800-72367800	Strong transcription	Primary B cells from cord blood	blood
9	chr16:72366800-72367800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr16:72367000-72370200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr16:72367200-72367400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:72367200-72389200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:72367200-72405000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:72367200-72423600	Weak transcription	Thymus	Thymus

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