Variant report

Variant	rs11065453
Chromosome Location	chr12:121581983-121581984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr12:121581639-121582499	IMR90	lung:	n/a	n/a
2	EP300	chr12:121581589-121582088	K562	blood:	n/a	n/a
3	ATF1	chr12:121581689-121582010	K562	blood:	n/a	n/a
4	EBF1	chr12:121581731-121582034	GM12878	blood:	n/a	chr12:121581899-121581910
5	TCF7L2	chr12:121581767-121582652	HCT-116	colon:	n/a	n/a
6	POLR2A	chr12:121581616-121582096	HL-60	blood:	n/a	n/a
7	JUN	chr12:121581515-121583422	K562	blood:	n/a	n/a
8	CEBPD	chr12:121581549-121582117	K562	blood:	n/a	n/a
9	IKZF1	chr12:121581707-121582030	GM12878	blood:	n/a	n/a
10	EP300	chr12:121581574-121581996	Hela-S3	cervix:	n/a	n/a
11	BATF	chr12:121581687-121581999	GM12878	blood:	n/a	n/a
12	CEBPB	chr12:121581557-121582740	HCT-116	colon:	n/a	chr12:121581759-121581770
13	EP300	chr12:121581665-121581984	GM12878	blood:	n/a	n/a
14	STAT5A	chr12:121581690-121582082	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:121581715-121582058	GM12892	blood:	n/a	n/a
16	RCOR1	chr12:121581806-121582020	GM12878	blood:	n/a	n/a
17	CEBPB	chr12:121581586-121582049	K562	blood:	n/a	chr12:121581759-121581770
18	FOS	chr12:121581610-121582853	MCF10A-Er-Src	breast:	n/a	n/a
19	CEBPB	chr12:121581573-121582820	Hela-S3	cervix:	n/a	chr12:121581759-121581770
20	MYC	chr12:121581680-121582006	NB4	blood:	n/a	n/a
21	MTA3	chr12:121581533-121582117	GM12878	blood:	n/a	n/a
22	FOS	chr12:121581585-121582839	MCF10A-Er-Src	breast:	n/a	n/a
23	ATF2	chr12:121581584-121582101	GM12878	blood:	n/a	n/a
24	PAX5	chr12:121581739-121582145	GM12878	blood:	n/a	n/a
25	SPI1	chr12:121581694-121582038	GM12891	blood:	n/a	n/a
26	SPI1	chr12:121581675-121582092	GM12891	blood:	n/a	n/a
27	HCFC1	chr12:121581731-121581995	K562	blood:	n/a	n/a
28	BHLHE40	chr12:121581736-121581994	K562	blood:	n/a	n/a
29	RUNX3	chr12:121581572-121582142	GM12878	blood:	n/a	n/a
30	MYC	chr12:121581627-121581987	MCF10A-Er-Src	breast:	n/a	n/a
31	SPI1	chr12:121581672-121582054	GM12878	blood:	n/a	n/a
32	SPI1	chr12:121581606-121582099	HL-60	blood:	n/a	n/a
33	FOS	chr12:121581608-121582851	MCF10A-Er-Src	breast:	n/a	n/a
34	NFIC	chr12:121581620-121582089	GM12878	blood:	n/a	n/a
35	FOXM1	chr12:121581569-121582081	GM12878	blood:	n/a	n/a
36	PAX5	chr12:121581718-121582109	GM12878	blood:	n/a	n/a
37	RELA	chr12:121581605-121582009	GM12891	blood:	n/a	n/a
38	STAT3	chr12:121581608-121582853	MCF10A-Er-Src	breast:	n/a	n/a
39	PML	chr12:121581595-121581985	K562	blood:	n/a	n/a
40	RUNX3	chr12:121581587-121582078	GM12878	blood:	n/a	n/a
41	SPI1	chr12:121581405-121582746	GM12878	blood:	n/a	n/a
42	FOS	chr12:121581610-121582813	MCF10A-Er-Src	breast:	n/a	n/a
43	RELA	chr12:121581602-121581998	GM18951	blood:	n/a	n/a
44	STAT3	chr12:121581600-121582869	MCF10A-Er-Src	breast:	n/a	n/a
45	IRF4	chr12:121581656-121582106	GM12878	blood:	n/a	n/a
46	CEBPB	chr12:121581599-121582768	IMR90	lung:	n/a	chr12:121581759-121581770
47	POLR2A	chr12:121581875-121582042	Hela-S3	cervix:	n/a	n/a
48	MEF2A	chr12:121581540-121582029	GM12878	blood:	n/a	n/a
49	JUND	chr12:121581618-121582554	K562	blood:	n/a	chr12:121582330-121582341
50	RELA	chr12:121581605-121582026	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121581791..121584022-chr12:121646215..121648780,2	K562	blood:
2	chr12:121575022..121577625-chr12:121581601..121583531,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257053	TF binding region
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10849843	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10849845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849846	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849848	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849849	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849850	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849851	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065428	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065433	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065435	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065436	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065443	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065458	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs208292	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2393800	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3861798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3891262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3900976	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4077055	0.95[ASN][1000 genomes]
rs4559762	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58717055	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6489794	0.95[ASN][1000 genomes]
rs684201	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7298521	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7302184	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7310821	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7313004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7314706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7954687	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121571400-121582800	Weak transcription	Lung	lung
2	chr12:121571400-121594000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:121571800-121582400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
5	chr12:121572000-121582800	Weak transcription	Primary B cells from cord blood	blood
6	chr12:121572200-121582200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:121572200-121582400	Weak transcription	NHLF	lung
8	chr12:121572200-121583000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:121572200-121599800	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:121572600-121592600	Weak transcription	Liver	Liver
11	chr12:121572800-121601600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:121576400-121582400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:121576600-121592400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:121577000-121593400	Weak transcription	Primary T cells from cord blood	blood
15	chr12:121577400-121582000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:121578200-121585200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:121578200-121592400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:121580200-121582400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:121580200-121582600	Weak transcription	Brain Anterior Caudate	brain
20	chr12:121580400-121592000	Weak transcription	Ovary	ovary
21	chr12:121580400-121592400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:121580800-121582400	Weak transcription	Brain Angular Gyrus	brain
23	chr12:121580800-121584000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:121581000-121583200	Enhancers	Placenta	Placenta
25	chr12:121581000-121584000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr12:121581200-121582200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:121581400-121582000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:121581400-121583200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:121581400-121583200	Enhancers	Primary B cells from peripheral blood	blood
30	chr12:121581400-121583200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr12:121581400-121583400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr12:121581400-121583800	Enhancers	K562	blood
33	chr12:121581600-121582200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:121581600-121582200	Flanking Active TSS	GM12878-XiMat	blood
35	chr12:121581600-121582600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:121581600-121582600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:121581600-121582800	Enhancers	Hela-S3	cervix
38	chr12:121581600-121583200	Enhancers	Dnd41	blood
39	chr12:121581600-121583200	Enhancers	NHEK	skin
40	chr12:121581600-121583800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:121581800-121582000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:121581800-121582000	Enhancers	Adipose Nuclei	Adipose
43	chr12:121581800-121582400	Enhancers	A549	lung
44	chr12:121581800-121582600	Enhancers	HepG2	liver
45	chr12:121581800-121582800	Enhancers	Brain Substantia Nigra	brain
46	chr12:121581800-121583000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:121581800-121583200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:121581800-121583200	Enhancers	Brain Cingulate Gyrus	brain
49	chr12:121581800-121583200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr12:121581800-121583800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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