Variant report

Variant	rs72800017
Chromosome Location	chr16:77248791-77248792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75678870..75681636-chr16:77246511..77249219,2	MCF-7	breast:
2	chr16:77240069..77243050-chr16:77247110..77249798,2	MCF-7	breast:
3	chr16:77223923..77226639-chr16:77244818..77248823,8	K562	blood:
4	chr16:77247036..77249452-chr16:77252040..77253583,2	K562	blood:

Variant related genes	Relation type
ENSG00000065427	Chromatin interaction
ENSG00000103111	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11862987	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12446458	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12449219	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2343041	0.82[AMR][1000 genomes]
rs72798545	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72798546	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72798551	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72800022	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72800028	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72800029	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9924848	0.87[ASN][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	nsv1065343	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv542965	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1055234	chr16:77003426-77467286	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1062349	chr16:77039764-77458731	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv542967	chr16:77039764-77458731	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv1066258	chr16:77229953-77521919	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv542968	chr16:77229953-77521919	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72800017	MON1B	cis	Artery Tibial	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77247000-77248800	Enhancers	Spleen	Spleen
2	chr16:77247200-77250200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr16:77247200-77253600	Weak transcription	Fetal Lung	lung
4	chr16:77247400-77248800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr16:77247400-77248800	Enhancers	HUVEC	blood vessel
6	chr16:77247400-77254600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr16:77247600-77248800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:77247600-77248800	Enhancers	Fetal Muscle Trunk	muscle
9	chr16:77247600-77251000	Weak transcription	Fetal Stomach	stomach
10	chr16:77247600-77254400	Weak transcription	Ovary	ovary
11	chr16:77247600-77257000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr16:77247800-77248800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr16:77247800-77248800	Enhancers	HMEC	breast
14	chr16:77247800-77250800	Weak transcription	HSMMtube	muscle
15	chr16:77247800-77253600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:77247800-77257400	Weak transcription	Esophagus	oesophagus
17	chr16:77247800-77261600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr16:77248400-77248800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:77248400-77248800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr16:77248400-77251200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:77248400-77253200	Weak transcription	Hela-S3	cervix
22	chr16:77248400-77256400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:77248600-77248800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:77248600-77248800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr16:77248600-77248800	Enhancers	Fetal Muscle Leg	muscle
26	chr16:77248600-77249000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:77248600-77250200	Enhancers	A549	lung
28	chr16:77248600-77253200	Weak transcription	NH-A	brain

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