Variant report

Variant	rs17860387
Chromosome Location	chr12:51720915-51720916
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	TBP	chr12:51720507-51720930	K562	blood:	n/a	n/a
2	POLR2A	chr12:51720521-51720961	U87	brain:	n/a	n/a
3	CEBPB	chr12:51720823-51721134	H1-hESC	embryonic stem cell:	n/a	chr12:51720985-51720996
4	GATA1	chr12:51720611-51721250	PBDE	blood:	n/a	n/a
5	TEAD4	chr12:51720536-51721194	K562	blood:	n/a	n/a
6	MAZ	chr12:51720513-51721091	K562	blood:	n/a	n/a
7	CEBPB	chr12:51720901-51721056	HepG2	liver:	n/a	chr12:51720985-51720996
8	TEAD4	chr12:51720745-51721181	ECC-1	luminal epithelium:	n/a	n/a
9	EP300	chr12:51720448-51721007	K562	blood:	n/a	chr12:51720643-51720657
10	CUX1	chr12:51720547-51721068	K562	blood:	n/a	n/a
11	MAFF	chr12:51720582-51720989	K562	blood:	n/a	n/a
12	IKZF1	chr12:51720509-51721059	GM12878	blood:	n/a	n/a
13	ELK1	chr12:51720640-51721071	K562	blood:	n/a	n/a
14	RCOR1	chr12:51720341-51720941	K562	blood:	n/a	n/a
15	MYC	chr12:51720634-51721051	MCF10A-Er-Src	breast:	n/a	n/a
16	CEBPB	chr12:51720457-51721312	A549	lung:	n/a	chr12:51720757-51720768 chr12:51720985-51720996
17	POLR2A	chr12:51720518-51721067	K562	blood:	n/a	n/a
18	RUNX3	chr12:51720245-51721004	GM12878	blood:	n/a	n/a
19	MAX	chr12:51720470-51721040	K562	blood:	n/a	chr12:51720483-51720493
20	CEBPB	chr12:51720565-51721205	Hela-S3	cervix:	n/a	chr12:51720757-51720768 chr12:51720985-51720996
21	RCOR1	chr12:51720684-51721073	Hela-S3	cervix:	n/a	n/a
22	ZNF143	chr12:51720486-51720980	K562	blood:	n/a	n/a
23	SPI1	chr12:51720395-51720960	GM12891	blood:	n/a	chr12:51720643-51720652
24	GTF2F1	chr12:51720490-51721171	Hela-S3	cervix:	n/a	n/a
25	STAT3	chr12:51720589-51720992	MCF10A-Er-Src	breast:	n/a	n/a
26	HCFC1	chr12:51720346-51721043	K562	blood:	n/a	n/a
27	TCF7L2	chr12:51720842-51721097	Hela-S3	cervix:	n/a	n/a
28	IRF1	chr12:51720436-51721117	K562	blood:	n/a	chr12:51720644-51720653 chr12:51720642-51720656 chr12:51720638-51720652 chr12:51720642-51720652 chr12:51720545-51720559
29	CEBPB	chr12:51720720-51721251	MCF-7	breast:	n/a	chr12:51720757-51720768 chr12:51720985-51720996
30	UBTF	chr12:51720496-51720961	K562	blood:	n/a	n/a
31	CEBPB	chr12:51720523-51721208	K562	blood:	n/a	chr12:51720757-51720768 chr12:51720985-51720996
32	POLR2A	chr12:51720870-51721083	MCF10A-Er-Src	breast:	n/a	n/a
33	CBX3	chr12:51720458-51721020	K562	blood:	n/a	n/a
34	TEAD4	chr12:51720744-51721176	HepG2	liver:	n/a	n/a
35	FOS	chr12:51720630-51720941	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr12:51720580-51720999	MCF10A-Er-Src	breast:	n/a	n/a
37	RFX5	chr12:51720797-51721083	Hela-S3	cervix:	n/a	n/a
38	FOS	chr12:51720627-51720964	MCF10A-Er-Src	breast:	n/a	n/a
39	NFIC	chr12:51720381-51721050	GM12878	blood:	n/a	n/a
40	IRF1	chr12:51720431-51721142	K562	blood:	n/a	chr12:51720644-51720653 chr12:51720642-51720656 chr12:51720638-51720652 chr12:51720642-51720652 chr12:51720545-51720559
41	FOXP2	chr12:51720641-51720987	SK-N-MC	brain:	n/a	n/a
42	CEBPB	chr12:51720617-51721223	MCF-7	breast:	n/a	chr12:51720757-51720768 chr12:51720985-51720996
43	ATF2	chr12:51720370-51720948	GM12878	blood:	n/a	n/a
44	BHLHE40	chr12:51720362-51720921	K562	blood:	n/a	n/a
45	BACH1	chr12:51720624-51720970	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAFK	chr12:51720457-51721040	K562	blood:	n/a	chr12:51720780-51720794 chr12:51720782-51720793 chr12:51720781-51720796 chr12:51720786-51720795
47	MAFK	chr12:51720619-51720927	H1-hESC	embryonic stem cell:	n/a	chr12:51720780-51720794 chr12:51720782-51720793 chr12:51720781-51720796 chr12:51720786-51720795
48	TBL1XR1	chr12:51720363-51721051	K562	blood:	n/a	n/a
49	CEBPB	chr12:51720634-51721148	A549	lung:	n/a	chr12:51720757-51720768 chr12:51720985-51720996
50	SPI1	chr12:51720399-51721085	HL-60	blood:	n/a	chr12:51720643-51720652

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
ENSG00000110911	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000135457	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12578771	0.90[EUR][1000 genomes]
rs12580302	0.85[EUR][1000 genomes]
rs12581282	0.90[EUR][1000 genomes]
rs17860277	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17860287	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17860296	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17860302	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17860346	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860364	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860365	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860378	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860380	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860382	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782470	0.83[EUR][1000 genomes]
rs3858637	0.81[EUR][1000 genomes]
rs4761870	0.81[EUR][1000 genomes]
rs55901988	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57484374	0.85[EUR][1000 genomes]
rs58213562	0.90[EUR][1000 genomes]
rs58673573	0.87[EUR][1000 genomes]
rs60641385	0.90[EUR][1000 genomes]
rs60797544	0.86[EUR][1000 genomes]
rs61172662	0.85[EUR][1000 genomes]
rs61380773	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61570206	0.90[EUR][1000 genomes]
rs61605107	0.87[EUR][1000 genomes]
rs7138394	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308177	0.82[EUR][1000 genomes]
rs7311196	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7312857	0.87[EUR][1000 genomes]
rs7316221	0.82[EUR][1000 genomes]
rs7316301	0.87[EUR][1000 genomes]
rs7316604	0.82[EUR][1000 genomes]
rs74093810	0.82[EUR][1000 genomes]
rs74093814	0.82[EUR][1000 genomes]
rs74093823	0.85[EUR][1000 genomes]
rs74093827	0.85[EUR][1000 genomes]
rs74093853	0.94[EUR][1000 genomes]
rs7975715	0.82[EUR][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:79 , 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	chr12:51717600-51721000	Weak transcription	Brain Substantia Nigra	brain
3	chr12:51717600-51722600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:51717800-51722200	Weak transcription	Small Intestine	intestine
5	chr12:51718000-51722400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:51718000-51724400	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:51718000-51724400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:51718400-51721200	Enhancers	Duodenum Mucosa	Duodenum
9	chr12:51718400-51722200	Enhancers	Primary T cells from cord blood	blood
10	chr12:51718400-51722400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:51718400-51722400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr12:51718400-51722600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:51718400-51723000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:51718400-51723200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:51718400-51723600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr12:51718400-51724400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:51718400-51724400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:51718400-51724400	Enhancers	Placenta	Placenta
19	chr12:51718400-51724400	Enhancers	Fetal Thymus	thymus
20	chr12:51718400-51727800	Weak transcription	Colonic Mucosa	Colon
21	chr12:51718600-51721000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:51718600-51723000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:51719200-51721200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr12:51719400-51723200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:51719600-51723200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr12:51719600-51723800	Enhancers	Dnd41	blood
27	chr12:51719800-51721000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr12:51719800-51721200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr12:51719800-51721200	Enhancers	Adipose Nuclei	Adipose
30	chr12:51719800-51721400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:51719800-51724200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr12:51720000-51721200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:51720000-51721200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:51720000-51721200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:51720000-51721200	Enhancers	HSMM	muscle
36	chr12:51720000-51721200	Enhancers	HSMMtube	muscle
37	chr12:51720000-51721400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:51720000-51721400	Enhancers	NHEK	skin
39	chr12:51720000-51722000	Enhancers	Liver	Liver
40	chr12:51720000-51722600	Enhancers	Brain Hippocampus Middle	brain
41	chr12:51720000-51723200	Enhancers	Thymus	Thymus
42	chr12:51720000-51723400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:51720200-51721000	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr12:51720200-51721000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr12:51720200-51721200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:51720200-51721200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:51720200-51721200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:51720200-51721200	Enhancers	NHDF-Ad	bronchial
49	chr12:51720200-51721400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:51720200-51721400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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