Variant report

Variant	rs8057145
Chromosome Location	chr16:75256251-75256252
allele	A/G
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	MAX	chr16:75256043-75256438	K562	blood:	n/a	chr16:75256248-75256258 chr16:75256247-75256258 chr16:75256249-75256256 chr16:75256248-75256257 chr16:75256250-75256259
2	USF1	chr16:75256135-75256321	HepG2	liver:	n/a	n/a
3	MYBL2	chr16:75256098-75256487	HepG2	liver:	n/a	n/a
4	E2F6	chr16:75256177-75256300	K562	blood:	n/a	n/a
5	USF1	chr16:75256155-75256420	K562	blood:	n/a	n/a
6	BHLHE40	chr16:75256157-75256423	K562	blood:	n/a	n/a
7	MAX	chr16:75256119-75256366	K562	blood:	n/a	chr16:75256248-75256258 chr16:75256247-75256258 chr16:75256249-75256256 chr16:75256248-75256257 chr16:75256250-75256259
8	SPI1	chr16:75256080-75256337	GM12878	blood:	n/a	n/a
9	MAX	chr16:75256121-75256432	K562	blood:	n/a	chr16:75256248-75256258 chr16:75256247-75256258 chr16:75256249-75256256 chr16:75256248-75256257 chr16:75256250-75256259
10	SPI1	chr16:75256111-75256305	K562	blood:	n/a	n/a
11	SPI1	chr16:75256096-75256394	HL-60	blood:	n/a	n/a
12	MYC	chr16:75256152-75256412	K562	blood:	n/a	chr16:75256248-75256258 chr16:75256247-75256258 chr16:75256249-75256256 chr16:75256248-75256257 chr16:75256250-75256259

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75251309..75253963-chr16:75256152..75258523,2	K562	blood:

Variant related genes	Relation type
ENSG00000240338	TF binding region
CTRB1	TF binding region
ENSG00000168925	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1019539	0.85[CEU][hapmap];0.89[TSI][hapmap]
rs1035540	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10871304	0.85[CEU][hapmap];0.82[TSI][hapmap]
rs1107593	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11149811	0.93[CEU][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11641896	0.90[EUR][1000 genomes]
rs12918452	0.85[EUR][1000 genomes]
rs12924999	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1808427	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1862738	0.87[EUR][1000 genomes]
rs2870471	0.80[CEU][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs2870472	0.93[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3169330	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4479268	0.85[CEU][hapmap];0.85[TSI][hapmap]
rs4737	1.00[CEU][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs4888361	0.91[EUR][1000 genomes]
rs4888362	0.81[EUR][1000 genomes]
rs4888363	0.80[CEU][hapmap];0.87[EUR][1000 genomes]
rs4888364	0.90[EUR][1000 genomes]
rs4888365	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6564221	0.85[CEU][hapmap];0.85[TSI][hapmap]
rs6564239	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6564241	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6564243	0.90[EUR][1000 genomes]
rs7195938	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7202566	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7205074	0.82[TSI][hapmap]
rs8048371	0.91[EUR][1000 genomes]
rs8048956	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8059190	0.86[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8061356	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs889514	0.85[EUR][1000 genomes]
rs889515	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9319481	0.84[CEU][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9927264	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9928842	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[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
rs8057145	CNTNAP4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75246800-75261000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:75251600-75261600	Weak transcription	HMEC	breast
3	chr16:75252600-75258200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:75252600-75262000	Weak transcription	Brain Angular Gyrus	brain
5	chr16:75253200-75261800	Weak transcription	Brain Anterior Caudate	brain
6	chr16:75253200-75263400	Weak transcription	HSMMtube	muscle
7	chr16:75253400-75261000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr16:75253400-75261400	Weak transcription	HSMM	muscle
9	chr16:75254000-75261400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:75254000-75261400	Weak transcription	NHDF-Ad	bronchial
11	chr16:75254000-75262400	Weak transcription	Brain Substantia Nigra	brain
12	chr16:75254000-75262400	Weak transcription	NH-A	brain
13	chr16:75254000-75267600	Weak transcription	Fetal Brain Male	brain
14	chr16:75254600-75268000	Weak transcription	GM12878-XiMat	blood
15	chr16:75255200-75258200	Active TSS	Pancreas	Pancrea
16	chr16:75256000-75256400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:75256000-75256800	Enhancers	Fetal Muscle Leg	muscle
18	chr16:75256200-75256400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:75256200-75256400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:75256200-75256400	Enhancers	Aorta	Aorta
21	chr16:75256200-75256400	Enhancers	Left Ventricle	heart
22	chr16:75256200-75256400	Flanking Bivalent TSS/Enh	HepG2	liver
23	chr16:75256200-75256600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr16:75256200-75256600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:75256200-75256600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr16:75256200-75256600	Enhancers	Fetal Heart	heart
27	chr16:75256200-75256600	Enhancers	Fetal Muscle Trunk	muscle
28	chr16:75256200-75256600	Enhancers	Right Atrium	heart

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