Variant report

Variant	rs11864719
Chromosome Location	chr16:75255129-75255130
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr16:75255081-75255322	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000240338	TF binding region
CTRB1	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11149808	0.89[AMR][1000 genomes]
rs12599715	0.81[AMR][1000 genomes]
rs12919410	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12935326	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4243110	0.80[ASW][hapmap];0.85[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4429320	0.81[AMR][1000 genomes]
rs56095863	0.87[ASN][1000 genomes]
rs56177985	0.84[ASN][1000 genomes]
rs5842	0.80[AMR][1000 genomes]
rs6564229	0.87[ASN][1000 genomes]
rs7194705	0.89[ASN][1000 genomes]
rs8047814	0.90[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs8062379	0.87[ASN][1000 genomes]
rs8062565	0.81[MEX][hapmap]
rs9797071	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv482198	chr16:75252884-75258821	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11864719	VAC14	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75246800-75261000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:75251400-75256200	Weak transcription	Right Atrium	heart
3	chr16:75251600-75261600	Weak transcription	HMEC	breast
4	chr16:75252600-75258200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:75252600-75262000	Weak transcription	Brain Angular Gyrus	brain
6	chr16:75253000-75256000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:75253200-75256000	Weak transcription	Fetal Muscle Leg	muscle
8	chr16:75253200-75256200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:75253200-75261800	Weak transcription	Brain Anterior Caudate	brain
10	chr16:75253200-75263400	Weak transcription	HSMMtube	muscle
11	chr16:75253400-75261000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr16:75253400-75261400	Weak transcription	HSMM	muscle
13	chr16:75254000-75256200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr16:75254000-75261400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:75254000-75261400	Weak transcription	NHDF-Ad	bronchial
16	chr16:75254000-75262400	Weak transcription	Brain Substantia Nigra	brain
17	chr16:75254000-75262400	Weak transcription	NH-A	brain
18	chr16:75254000-75267600	Weak transcription	Fetal Brain Male	brain
19	chr16:75254200-75255200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr16:75254600-75268000	Weak transcription	GM12878-XiMat	blood
21	chr16:75255000-75255200	Transcr. at gene 5' and 3'	Pancreas	Pancrea
22	chr16:75255000-75255200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr16:75255000-75255200	Flanking Active TSS	HepG2	liver

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