Variant report

Variant	rs72791159
Chromosome Location	chr16:72413935-72413936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10083729	0.82[AFR][1000 genomes]
rs1080536	1.00[ASN][1000 genomes]
rs28578138	0.82[AFR][1000 genomes]
rs56071735	0.84[EUR][1000 genomes]
rs56141632	0.84[EUR][1000 genomes]
rs56844024	0.91[ASN][1000 genomes]
rs61306423	0.94[ASN][1000 genomes]
rs72791143	0.84[EUR][1000 genomes]
rs72791153	0.84[EUR][1000 genomes]
rs72793220	0.84[EUR][1000 genomes]
rs72793222	0.84[EUR][1000 genomes]
rs72793224	0.84[EUR][1000 genomes]
rs72793229	0.84[EUR][1000 genomes]
rs72793243	0.84[EUR][1000 genomes]
rs72793245	0.84[EUR][1000 genomes]
rs72793247	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72793251	0.87[EUR][1000 genomes]
rs72793257	0.81[AMR][1000 genomes];0.94[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	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	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
10	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72367200-72423600	Weak transcription	Thymus	Thymus
2	chr16:72400600-72422200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:72400800-72420000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr16:72405600-72420000	Weak transcription	Primary B cells from cord blood	blood
5	chr16:72407600-72414400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:72407600-72420800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr16:72407600-72426400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:72408200-72414000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr16:72410600-72420800	Weak transcription	Dnd41	blood
10	chr16:72412400-72415200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:72413600-72414200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:72413600-72414800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:72413600-72414800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr16:72413800-72414200	Enhancers	HepG2	liver
15	chr16:72413800-72414600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr16:72413800-72414800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:72413800-72414800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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