Variant report

Variant	rs17860384
Chromosome Location	chr12:51721023-51721024
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	CEBPB	chr12:51720823-51721134	H1-hESC	embryonic stem cell:	n/a	chr12:51720985-51720996
2	GATA1	chr12:51720611-51721250	PBDE	blood:	n/a	n/a
3	TEAD4	chr12:51720536-51721194	K562	blood:	n/a	n/a
4	MAZ	chr12:51720513-51721091	K562	blood:	n/a	n/a
5	CEBPB	chr12:51720901-51721056	HepG2	liver:	n/a	chr12:51720985-51720996
6	TEAD4	chr12:51720745-51721181	ECC-1	luminal epithelium:	n/a	n/a
7	CUX1	chr12:51720547-51721068	K562	blood:	n/a	n/a
8	IKZF1	chr12:51720509-51721059	GM12878	blood:	n/a	n/a
9	STAT1	chr12:51720949-51721129	GM12878	blood:	n/a	n/a
10	ELK1	chr12:51720640-51721071	K562	blood:	n/a	n/a
11	MYC	chr12:51720634-51721051	MCF10A-Er-Src	breast:	n/a	n/a
12	CEBPB	chr12:51720457-51721312	A549	lung:	n/a	chr12:51720757-51720768 chr12:51720985-51720996
13	POLR2A	chr12:51720518-51721067	K562	blood:	n/a	n/a
14	MAX	chr12:51720470-51721040	K562	blood:	n/a	chr12:51720483-51720493
15	CEBPB	chr12:51720565-51721205	Hela-S3	cervix:	n/a	chr12:51720757-51720768 chr12:51720985-51720996
16	RCOR1	chr12:51720684-51721073	Hela-S3	cervix:	n/a	n/a
17	GTF2F1	chr12:51720490-51721171	Hela-S3	cervix:	n/a	n/a
18	HCFC1	chr12:51720346-51721043	K562	blood:	n/a	n/a
19	TCF7L2	chr12:51720842-51721097	Hela-S3	cervix:	n/a	n/a
20	IRF1	chr12:51720436-51721117	K562	blood:	n/a	chr12:51720644-51720653 chr12:51720642-51720656 chr12:51720638-51720652 chr12:51720642-51720652 chr12:51720545-51720559
21	CEBPB	chr12:51720720-51721251	MCF-7	breast:	n/a	chr12:51720757-51720768 chr12:51720985-51720996
22	CEBPB	chr12:51720523-51721208	K562	blood:	n/a	chr12:51720757-51720768 chr12:51720985-51720996
23	POLR2A	chr12:51720870-51721083	MCF10A-Er-Src	breast:	n/a	n/a
24	TEAD4	chr12:51720744-51721176	HepG2	liver:	n/a	n/a
25	RFX5	chr12:51720797-51721083	Hela-S3	cervix:	n/a	n/a
26	NFIC	chr12:51720381-51721050	GM12878	blood:	n/a	n/a
27	IRF1	chr12:51720431-51721142	K562	blood:	n/a	chr12:51720644-51720653 chr12:51720642-51720656 chr12:51720638-51720652 chr12:51720642-51720652 chr12:51720545-51720559
28	CEBPB	chr12:51720617-51721223	MCF-7	breast:	n/a	chr12:51720757-51720768 chr12:51720985-51720996
29	MAFK	chr12:51720457-51721040	K562	blood:	n/a	chr12:51720780-51720794 chr12:51720782-51720793 chr12:51720781-51720796 chr12:51720786-51720795
30	TBL1XR1	chr12:51720363-51721051	K562	blood:	n/a	n/a
31	CEBPB	chr12:51720634-51721148	A549	lung:	n/a	chr12:51720757-51720768 chr12:51720985-51720996
32	SPI1	chr12:51720399-51721085	HL-60	blood:	n/a	chr12:51720643-51720652
33	CEBPB	chr12:51720590-51721090	K562	blood:	n/a	chr12:51720757-51720768 chr12:51720985-51720996
34	CEBPB	chr12:51720735-51721189	A549	lung:	n/a	chr12:51720757-51720768 chr12:51720985-51720996
35	MAX	chr12:51720171-51721051	NB4	blood:	n/a	chr12:51720483-51720493
36	EGR1	chr12:51720911-51721226	K562	blood:	n/a	chr12:51721152-51721163 chr12:51721150-51721165
37	CEBPB	chr12:51720598-51721266	ECC-1	luminal epithelium:	n/a	chr12:51720757-51720768 chr12:51720985-51720996
38	MEF2A	chr12:51720520-51721045	K562	blood:	n/a	chr12:51720757-51720778 chr12:51720757-51720778
39	POLR2A	chr12:51720402-51721101	HL-60	blood:	n/a	n/a
40	FOS	chr12:51720604-51721088	MCF10A-Er-Src	breast:	n/a	n/a
41	SMC3	chr12:51720519-51721046	Hela-S3	cervix:	n/a	n/a
42	BCLAF1	chr12:51720403-51721047	GM12878	blood:	n/a	chr12:51720643-51720652
43	CEBPB	chr12:51720610-51721162	IMR90	lung:	n/a	chr12:51720757-51720768 chr12:51720985-51720996
44	NFIC	chr12:51720335-51721248	GM12878	blood:	n/a	n/a
45	CCNT2	chr12:51720532-51721185	K562	blood:	n/a	n/a
46	MTA3	chr12:51720388-51721247	GM12878	blood:	n/a	n/a
47	TEAD4	chr12:51720382-51721241	K562	blood:	n/a	n/a
48	CEBPB	chr12:51720653-51721190	HCT-116	colon:	n/a	chr12:51720757-51720768 chr12:51720985-51720996
49	CEBPD	chr12:51720509-51721056	K562	blood:	n/a	n/a
50	RCOR1	chr12:51720461-51721274	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:51475890..51478856-chr12:51719210..51722345,3	K562	blood:
2	chr12:51632967..51634708-chr12:51718961..51721755,2	K562	blood:
3	chr12:51712710..51714894-chr12:51720855..51723845,2	K562	blood:
4	chr12:51417902..51420501-chr12:51719275..51722211,2	K562	blood:
5	chr12:51710356..51713645-chr12:51720668..51723733,3	MCF-7	breast:
6	chr12:51663552..51665090-chr12:51718894..51721818,2	MCF-7	breast:
7	chr12:51720048..51722146-chr12:51747016..51749714,2	K562	blood:
8	chr12:51661800..51664432-chr12:51720431..51722225,2	K562	blood:
9	chr12:51661913..51666807-chr12:51714627..51721165,8	MCF-7	breast:
10	chr12:51712710..51716828-chr12:51719754..51724043,5	K562	blood:
11	chr12:51566806..51568529-chr12:51720798..51723312,2	K562	blood:

Variant related genes	Relation type
BIN2	TF binding region
ENSG00000110925	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000183283	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12298477	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12309916	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12317091	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12322804	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17125635	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17860332	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071453	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4026022	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7138439	0.85[ASN][1000 genomes]
rs72644880	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv469377	chr12:51690751-51733951	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv558877	chr12:51690751-51733951	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51711800-51721800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:51717600-51722600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:51717800-51722200	Weak transcription	Small Intestine	intestine
4	chr12:51718000-51722400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:51718000-51724400	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:51718000-51724400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:51718400-51721200	Enhancers	Duodenum Mucosa	Duodenum
8	chr12:51718400-51722200	Enhancers	Primary T cells from cord blood	blood
9	chr12:51718400-51722400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr12:51718400-51722400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:51718400-51722600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:51718400-51723000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:51718400-51723200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:51718400-51723600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr12:51718400-51724400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:51718400-51724400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:51718400-51724400	Enhancers	Placenta	Placenta
18	chr12:51718400-51724400	Enhancers	Fetal Thymus	thymus
19	chr12:51718400-51727800	Weak transcription	Colonic Mucosa	Colon
20	chr12:51718600-51723000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr12:51719200-51721200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr12:51719400-51723200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:51719600-51723200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr12:51719600-51723800	Enhancers	Dnd41	blood
25	chr12:51719800-51721200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr12:51719800-51721200	Enhancers	Adipose Nuclei	Adipose
27	chr12:51719800-51721400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:51719800-51724200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr12:51720000-51721200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:51720000-51721200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:51720000-51721200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:51720000-51721200	Enhancers	HSMM	muscle
33	chr12:51720000-51721200	Enhancers	HSMMtube	muscle
34	chr12:51720000-51721400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:51720000-51721400	Enhancers	NHEK	skin
36	chr12:51720000-51722000	Enhancers	Liver	Liver
37	chr12:51720000-51722600	Enhancers	Brain Hippocampus Middle	brain
38	chr12:51720000-51723200	Enhancers	Thymus	Thymus
39	chr12:51720000-51723400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:51720200-51721200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:51720200-51721200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:51720200-51721200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:51720200-51721200	Enhancers	NHDF-Ad	bronchial
44	chr12:51720200-51721400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:51720200-51721400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:51720200-51721400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr12:51720200-51721400	Enhancers	HMEC	breast
48	chr12:51720200-51721400	Flanking Active TSS	K562	blood
49	chr12:51720400-51721200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:51720400-51721200	Enhancers	Fetal Lung	lung

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