Variant report

Variant	rs4783305
Chromosome Location	chr16:83024109-83024110
allele	C/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	FOSL2	chr16:83023629-83024211	SK-N-SH	brain:	n/a	chr16:83023927-83023935 chr16:83023927-83023934 chr16:83023927-83023935
2	GATA3	chr16:83023580-83024207	SK-N-SH	brain:	n/a	chr16:83023925-83023934
3	PBX3	chr16:83023585-83024231	SK-N-SH	brain:	n/a	chr16:83023783-83023792
4	FOS	chr16:83023760-83024162	HUVEC	blood vessel:	n/a	chr16:83023927-83023935 chr16:83023927-83023934 chr16:83023927-83023935
5	GATA2	chr16:83023698-83024387	HUVEC	blood vessel:	n/a	chr16:83023925-83023934
6	GATA3	chr16:83023592-83024336	SK-N-SH	brain:	n/a	chr16:83023925-83023934
7	PBX3	chr16:83023568-83024219	SK-N-SH	brain:	n/a	chr16:83023783-83023792

Variant related genes	Relation type
ENSG00000260832	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10492871	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11862994	0.93[ASN][1000 genomes]
rs16958988	0.81[ASN][1000 genomes]
rs17682789	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17744947	0.80[ASN][1000 genomes]
rs4783304	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57696761	0.88[AFR][1000 genomes]
rs60087102	0.88[AFR][1000 genomes]
rs60463278	0.88[AFR][1000 genomes]
rs6565098	0.83[AFR][1000 genomes]
rs72792120	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs72792158	0.80[AFR][1000 genomes]
rs72792163	0.80[AFR][1000 genomes]
rs72792167	0.85[AFR][1000 genomes]
rs72792168	0.85[AFR][1000 genomes]
rs72792170	0.83[AFR][1000 genomes]
rs72792172	0.83[AFR][1000 genomes]
rs72792173	0.83[AFR][1000 genomes]
rs72794129	0.81[AFR][1000 genomes]
rs72794130	0.81[AFR][1000 genomes]
rs72794131	0.83[AFR][1000 genomes]
rs72794145	0.83[AFR][1000 genomes]
rs72794158	0.82[AFR][1000 genomes]
rs72794159	0.82[AFR][1000 genomes]
rs7499040	0.84[AFR][1000 genomes]
rs7501396	0.87[AFR][1000 genomes]
rs8061888	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv907029	chr16:82951179-83044665	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv907030	chr16:82959437-83044665	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1056005	chr16:82987872-83055420	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1055246	chr16:82988025-83056132	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1064172	chr16:82988932-83046695	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv522570	chr16:82988977-83044665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv573383	chr16:82988977-83044665	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv573384	chr16:82994130-83044665	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82989800-83029600	Weak transcription	HMEC	breast
2	chr16:82995000-83027400	Weak transcription	HSMMtube	muscle
3	chr16:83009000-83029400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:83014800-83030400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:83017800-83028800	Weak transcription	Left Ventricle	heart
6	chr16:83019600-83029600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:83021600-83029400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:83021600-83035200	Weak transcription	Psoas Muscle	Psoas
9	chr16:83021800-83028800	Weak transcription	NHDF-Ad	bronchial
10	chr16:83021800-83029000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:83021800-83029200	Weak transcription	NHEK	skin
12	chr16:83021800-83035000	Weak transcription	Aorta	Aorta
13	chr16:83022600-83024400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr16:83023000-83024200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:83023000-83024200	Enhancers	NH-A	brain
16	chr16:83023200-83024200	Enhancers	HUVEC	blood vessel
17	chr16:83023200-83024400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:83023600-83024200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:83023800-83025400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:83024000-83027400	Weak transcription	HSMM	muscle
21	chr16:83024000-83029200	Weak transcription	Osteobl	bone

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