Variant report

Variant	rs16866053
Chromosome Location	chr2:178939588-178939589
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	chr2:178939397-178939995	SK-N-SH	brain:	n/a	chr2:178939597-178939606
2	EP300	chr2:178939551-178939844	SK-N-SH_RA	brain:	n/a	chr2:178939602-178939616
3	GATA3	chr2:178939364-178940080	MCF-7	breast:	n/a	n/a
4	STAT5A	chr2:178939498-178939908	K562	blood:	n/a	n/a
5	MYC	chr2:178939409-178940022	K562	blood:	n/a	n/a
6	TBP	chr2:178939466-178939787	K562	blood:	n/a	n/a
7	FOS	chr2:178939553-178939912	MCF10A-Er-Src	breast:	n/a	chr2:178939597-178939606
8	ZMIZ1	chr2:178939511-178939851	K562	blood:	n/a	n/a
9	FOSL1	chr2:178939489-178940058	HCT-116	colon:	n/a	chr2:178939597-178939606
10	JUN	chr2:178936574-178940165	K562	blood:	n/a	chr2:178937775-178937783 chr2:178939597-178939606
11	RCOR1	chr2:178939116-178939813	K562	blood:	n/a	n/a
12	EP300	chr2:178939094-178940009	SK-N-SH	brain:	n/a	chr2:178939602-178939616
13	POLR2A	chr2:178939487-178939912	K562	blood:	n/a	n/a
14	FOSL2	chr2:178939467-178939988	MCF-7	breast:	n/a	chr2:178939597-178939606
15	GATA3	chr2:178939308-178940076	MCF-7	breast:	n/a	n/a
16	FOSL1	chr2:178939451-178939821	K562	blood:	n/a	chr2:178939597-178939606
17	BHLHE40	chr2:178938986-178939880	K562	blood:	n/a	n/a
18	CEBPB	chr2:178938938-178939914	K562	blood:	n/a	chr2:178939024-178939035
19	TAL1	chr2:178939481-178939900	K562	blood:	n/a	n/a
20	CHD2	chr2:178939550-178939923	K562	blood:	n/a	n/a
21	TEAD4	chr2:178939360-178940053	K562	blood:	n/a	n/a
22	NR2F2	chr2:178939470-178939884	K562	blood:	n/a	n/a
23	CCNT2	chr2:178939507-178939859	K562	blood:	n/a	n/a
24	POLR2A	chr2:178939546-178939658	K562	blood:	n/a	n/a
25	SIN3AK20	chr2:178939398-178940082	MCF-7	breast:	n/a	n/a
26	IRF1	chr2:178938998-178939844	K562	blood:	n/a	chr2:178939242-178939251 chr2:178939277-178939290 chr2:178939279-178939293 chr2:178939279-178939289 chr2:178939277-178939290
27	GATA3	chr2:178939463-178939883	T-47D	breast:	n/a	n/a
28	TCF12	chr2:178939352-178940054	SK-N-SH	brain:	n/a	n/a
29	GATA3	chr2:178939333-178940098	SK-N-SH	brain:	n/a	n/a
30	PML	chr2:178939059-178939941	K562	blood:	n/a	n/a
31	JUN	chr2:178939371-178939953	K562	blood:	n/a	chr2:178939597-178939606
32	YY1	chr2:178939467-178939907	SK-N-SH	brain:	n/a	n/a
33	FOSL1	chr2:178939554-178939824	K562	blood:	n/a	chr2:178939597-178939606
34	MAFK	chr2:178939488-178939874	K562	blood:	n/a	n/a
35	MYC	chr2:178939400-178939975	K562	blood:	n/a	n/a
36	STAT5A	chr2:178939337-178939951	K562	blood:	n/a	n/a
37	RCOR1	chr2:178938767-178939848	K562	blood:	n/a	n/a
38	TCF12	chr2:178939337-178940031	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr2:178939390-178939830	K562	blood:	n/a	n/a
40	GATA2	chr2:178939499-178939960	SH-SY5Y	brain:	n/a	n/a
41	HMGN3	chr2:178939312-178939785	K562	blood:	n/a	n/a
42	EP300	chr2:178939082-178939928	K562	blood:	n/a	chr2:178939602-178939616
43	JUND	chr2:178939455-178939894	MCF-7	breast:	n/a	chr2:178939597-178939606
44	FOS	chr2:178939580-178939902	MCF10A-Er-Src	breast:	n/a	chr2:178939597-178939606
45	GATA3	chr2:178939381-178940026	A549	lung:	n/a	n/a
46	CEBPD	chr2:178939354-178939917	K562	blood:	n/a	n/a
47	JUN	chr2:178939477-178939901	K562	blood:	n/a	chr2:178939597-178939606
48	GATA1	chr2:178939203-178939909	PBDE	blood:	n/a	n/a
49	EP300	chr2:178939532-178939893	SK-N-SH_RA	brain:	n/a	chr2:178939602-178939616
50	GATA3	chr2:178939495-178939895	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178937877..178941148-chr2:179277958..179279935,3	K562	blood:

Variant related genes	Relation type
PDE11A	TF binding region
ENSG00000223960	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7596695	1.00[AMR][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	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178937400-178940200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:178937800-178939600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:178937800-178940000	Flanking Active TSS	K562	blood
4	chr2:178938000-178939600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:178938000-178940000	Enhancers	Stomach Mucosa	stomach
6	chr2:178938200-178939600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:178938200-178939800	Enhancers	Duodenum Mucosa	Duodenum
8	chr2:178938200-178940000	Enhancers	HMEC	breast
9	chr2:178938200-178940000	Enhancers	NHEK	skin
10	chr2:178938400-178940000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:178938400-178940000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:178938400-178940000	Enhancers	Fetal Intestine Large	intestine
13	chr2:178938400-178940000	Enhancers	Fetal Intestine Small	intestine
14	chr2:178938800-178940000	Enhancers	A549	lung
15	chr2:178939000-178940200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:178939000-178940200	Enhancers	Hela-S3	cervix
17	chr2:178939200-178940000	Enhancers	HUVEC	blood vessel
18	chr2:178939400-178939600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:178939400-178939600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:178939400-178939600	Enhancers	Placenta	Placenta
21	chr2:178939400-178939600	Enhancers	NH-A	brain
22	chr2:178939400-178939800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:178939400-178939800	Enhancers	Gastric	stomach
24	chr2:178939400-178940000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:178939400-178940200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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