Variant report

Variant	rs12600175
Chromosome Location	chr16:72382123-72382124
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10492820	0.92[ASN][1000 genomes]
rs12051317	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12595984	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12596421	1.00[EUR][1000 genomes]
rs12596827	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12597916	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12598100	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12599861	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1437196	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16970845	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16970852	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16970879	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16970888	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16970895	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16970901	0.87[AMR][1000 genomes]
rs16970906	0.87[AMR][1000 genomes]
rs16970922	0.82[AMR][1000 genomes]
rs2059901	0.85[AMR][1000 genomes]
rs2161659	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2878752	0.82[AMR][1000 genomes]
rs28823672	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28876074	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4788468	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4788627	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4788629	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788631	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4788633	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4788634	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4788635	0.82[ASN][1000 genomes]
rs4788637	0.87[AMR][1000 genomes]
rs58097957	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs60144415	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60962205	0.83[AMR][1000 genomes]
rs873899	0.85[AMR][1000 genomes]
rs9938153	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9989361	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
5	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
6	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
7	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
8	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
9	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
10	nsv1057127	chr16:72375524-72509686	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv542949	chr16:72375524-72509686	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72367200-72389200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:72367200-72405000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:72367200-72423600	Weak transcription	Thymus	Thymus
4	chr16:72370200-72399600	Weak transcription	Primary B cells from cord blood	blood
5	chr16:72370800-72385000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:72380200-72383000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr16:72381200-72384200	Weak transcription	Dnd41	blood
8	chr16:72381600-72384000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:72381800-72383200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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