Variant report

Variant	rs59615693
Chromosome Location	chr16:48192591-48192592
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	FOSL2	chr16:48192083-48192725	HepG2	liver:	n/a	chr16:48192442-48192453 chr16:48192409-48192420
2	EBF1	chr16:48192271-48192622	GM12878	blood:	n/a	chr16:48192451-48192462
3	PAX5	chr16:48192151-48192729	GM12878	blood:	n/a	n/a
4	CEBPB	chr16:48192160-48192713	GM12878	blood:	n/a	n/a
5	ESRRA	chr16:48191970-48192798	GM12878	blood:	n/a	n/a
6	EP300	chr16:48192162-48192665	A549	lung:	n/a	n/a
7	JUND	chr16:48192199-48192619	A549	lung:	n/a	chr16:48192443-48192454 chr16:48192408-48192419
8	SP1	chr16:48192026-48192851	HCT-116	colon:	n/a	n/a
9	BATF	chr16:48192185-48192600	GM12878	blood:	n/a	chr16:48192361-48192372 chr16:48192406-48192417
10	MAX	chr16:48192195-48192824	A549	lung:	n/a	n/a
11	ATF2	chr16:48192027-48192682	GM12878	blood:	n/a	n/a
12	JUND	chr16:48192218-48192756	SK-N-SH	brain:	n/a	chr16:48192443-48192454 chr16:48192408-48192419
13	FOS	chr16:48192180-48192635	MCF10A-Er-Src	breast:	n/a	chr16:48192408-48192419 chr16:48192443-48192454
14	MYC	chr16:48191950-48192593	MCF10A-Er-Src	breast:	n/a	n/a
15	TBL1XR1	chr16:48192187-48192600	GM12878	blood:	n/a	n/a
16	FOSL1	chr16:48191876-48192861	HCT-116	colon:	n/a	chr16:48192359-48192370 chr16:48192408-48192419
17	ATF2	chr16:48192175-48192665	GM12878	blood:	n/a	n/a
18	RXRA	chr16:48192071-48192823	SK-N-SH	brain:	n/a	n/a
19	FOSL2	chr16:48192167-48192665	HepG2	liver:	n/a	chr16:48192442-48192453 chr16:48192409-48192420
20	NR3C1	chr16:48192221-48192692	A549	lung:	n/a	n/a
21	FOS	chr16:48192164-48192634	MCF10A-Er-Src	breast:	n/a	chr16:48192408-48192419 chr16:48192443-48192454
22	EP300	chr16:48192224-48192660	GM12878	blood:	n/a	n/a
23	FOS	chr16:48191954-48192636	MCF10A-Er-Src	breast:	n/a	chr16:48192408-48192419 chr16:48192443-48192454
24	TCF12	chr16:48192042-48192790	SK-N-SH	brain:	n/a	n/a
25	EBF1	chr16:48192239-48192662	GM12878	blood:	n/a	chr16:48192451-48192462
26	FOXM1	chr16:48192139-48192722	GM12878	blood:	n/a	n/a
27	STAT5A	chr16:48192199-48192620	GM12878	blood:	n/a	n/a
28	EP300	chr16:48192093-48192685	SK-N-SH_RA	brain:	n/a	n/a
29	JUN	chr16:48192257-48192593	HepG2	liver:	n/a	n/a
30	RUNX3	chr16:48192092-48192750	GM12878	blood:	n/a	n/a
31	EP300	chr16:48192130-48192701	SK-N-SH_RA	brain:	n/a	n/a
32	JUND	chr16:48192097-48192777	SK-N-SH	brain:	n/a	chr16:48192443-48192454 chr16:48192408-48192419
33	FOS	chr16:48192117-48192632	MCF10A-Er-Src	breast:	n/a	chr16:48192408-48192419 chr16:48192443-48192454
34	POLR2A	chr16:48192160-48192592	HCT-116	colon:	n/a	n/a
35	JUN	chr16:48192269-48192596	K562	blood:	n/a	n/a
36	MTA3	chr16:48192115-48192702	GM12878	blood:	n/a	n/a
37	JUND	chr16:48191983-48192839	HCT-116	colon:	n/a	chr16:48192443-48192454 chr16:48192408-48192419
38	FOSL2	chr16:48192007-48192753	A549	lung:	n/a	chr16:48192442-48192453 chr16:48192409-48192420
39	RELA	chr16:48192132-48192667	GM12891	blood:	n/a	n/a
40	NFIC	chr16:48191831-48192750	GM12878	blood:	n/a	n/a
41	NFATC1	chr16:48191970-48192721	GM12878	blood:	n/a	n/a
42	NR3C1	chr16:48192183-48192705	A549	lung:	n/a	n/a
43	GATA3	chr16:48192157-48192638	SK-N-SH	brain:	n/a	n/a
44	IRF4	chr16:48192151-48192691	GM12878	blood:	n/a	n/a
45	NFIC	chr16:48192166-48192729	SK-N-SH	brain:	n/a	n/a
46	RXRA	chr16:48192219-48192733	SK-N-SH	brain:	n/a	n/a
47	JUN	chr16:48191837-48192748	K562	blood:	n/a	n/a
48	MAX	chr16:48191582-48192882	A549	lung:	n/a	n/a
49	FOSL1	chr16:48192138-48192621	K562	blood:	n/a	chr16:48192359-48192370 chr16:48192408-48192419
50	BCL11A	chr16:48192157-48192694	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48191822..48194103-chr16:48195555..48198245,2	K562	blood:

Variant related genes	Relation type
ABCC12	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58488427	1.00[AMR][1000 genomes]
rs58567530	1.00[AMR][1000 genomes]
rs59029650	1.00[AMR][1000 genomes]
rs59728440	1.00[AMR][1000 genomes]
rs60460102	1.00[AMR][1000 genomes]
rs61380353	1.00[AMR][1000 genomes]
rs61692943	1.00[AMR][1000 genomes]
rs74018246	1.00[AMR][1000 genomes]
rs74018247	1.00[AMR][1000 genomes]
rs74018248	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48189600-48193200	Enhancers	A549	lung
2	chr16:48190400-48192800	Enhancers	HMEC	breast
3	chr16:48190800-48192600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:48190800-48192800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:48190800-48192800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:48190800-48192800	Enhancers	NHEK	skin
7	chr16:48190800-48194400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:48191000-48198800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr16:48191000-48199000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:48191200-48192800	Enhancers	GM12878-XiMat	blood
11	chr16:48191600-48192800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:48191800-48192600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:48191800-48192800	Enhancers	NH-A	brain
14	chr16:48191800-48193400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr16:48192000-48192600	Enhancers	HSMM	muscle
16	chr16:48192000-48192800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr16:48192000-48192800	Enhancers	Osteobl	bone
18	chr16:48192200-48192600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:48192200-48192600	Enhancers	NHLF	lung
20	chr16:48192200-48192800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:48192200-48192800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr16:48192200-48192800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:48192200-48192800	Enhancers	NHDF-Ad	bronchial
24	chr16:48192200-48193200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:48192400-48192600	Enhancers	Fetal Thymus	thymus
26	chr16:48192400-48192800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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