Variant report

Variant	rs58901651
Chromosome Location	chr12:123238151-123238152
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	POLR2A	chr12:123237878-123238271	SK-N-SH	brain:	n/a	n/a
2	ZNF263	chr12:123236950-123238773	HEK293-T-REx	kidney:	n/a	chr12:123238487-123238496 chr12:123238490-123238499
3	MAX	chr12:123236763-123238191	A549	lung:	n/a	chr12:123237735-123237745 chr12:123237602-123237612 chr12:123237159-123237167
4	BCL3	chr12:123236825-123238235	A549	lung:	n/a	chr12:123237334-123237347 chr12:123237333-123237346
5	POLR2A	chr12:123236824-123238246	Hela-S3	cervix:	n/a	n/a
6	MTA3	chr12:123236783-123238219	GM12878	blood:	n/a	n/a
7	SMARCC1	chr12:123236912-123238263	Hela-S3	cervix:	n/a	chr12:123237130-123237139
8	POLR2A	chr12:123236890-123238194	Raji	blood:	n/a	n/a
9	ZMIZ1	chr12:123237985-123238163	K562	blood:	n/a	n/a
10	POLR2A	chr12:123236881-123238213	GM12892	blood:	n/a	n/a
11	CTCF	chr12:123236766-123238164	A549	lung:	n/a	chr12:123237221-123237234 chr12:123237335-123237348
12	POLR2A	chr12:123236929-123238171	H1-hESC	embryonic stem cell:	n/a	n/a
13	ELF1	chr12:123237794-123238164	K562	blood:	n/a	chr12:123237977-123237990
14	POLR2A	chr12:123237259-123238307	GM12892	blood:	n/a	n/a
15	POLR2A	chr12:123236882-123238332	GM12891	blood:	n/a	n/a
16	POLR2A	chr12:123236802-123238249	U87	brain:	n/a	n/a
17	POLR2A	chr12:123236964-123238305	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr12:123236719-123238402	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr12:123236928-123238198	HL-60	blood:	n/a	n/a
20	HCFC1	chr12:123236781-123238312	Hela-S3	cervix:	n/a	n/a
21	YY1	chr12:123237804-123238175	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:123238104-123238361	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr12:123236831-123238481	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr12:123237045-123238240	GM12892	blood:	n/a	n/a
25	RAD21	chr12:123236890-123238244	IMR90	lung:	n/a	chr12:123237221-123237235 chr12:123237334-123237348
26	POLR2A	chr12:123236975-123238829	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:123236812-123238255	U87	brain:	n/a	n/a
28	POLR2A	chr12:123236700-123238760	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr12:123236913-123238284	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr12:123236929-123238210	GM12891	blood:	n/a	n/a
31	PML	chr12:123236860-123238172	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:123236836-123238166	HUVEC	blood vessel:	n/a	n/a
33	EGR1	chr12:123236788-123238362	HCT-116	colon:	n/a	chr12:123237736-123237746 chr12:123237599-123237608 chr12:123237735-123237748 chr12:123237577-123237587 chr12:123237300-123237313 chr12:123237734-123237749 chr12:123237789-123237799 chr12:123237735-123237748 chr12:123237301-123237310 chr12:123237597-123237612
34	POLR2A	chr12:123236904-123238408	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:123236914-123238262	GM12878	blood:	n/a	n/a
36	REST	chr12:123236627-123238248	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123120793..123122502-chr12:123237496..123239283,2	MCF-7	breast:
2	chr12:123237047..123238591-chr12:123260117..123262798,2	K562	blood:
3	chr12:123237061..123238610-chr12:123318389..123320839,2	MCF-7	breast:
4	chr12:123236945..123239092-chr12:123263522..123266278,3	K562	blood:
5	chr12:123236169..123239442-chr12:123257222..123260625,5	MCF-7	breast:
6	chr12:122883132..122886264-chr12:123235650..123239708,3	MCF-7	breast:
7	chr12:123237435..123239674-chr12:123244773..123246396,2	K562	blood:
8	chr12:122984002..122986497-chr12:123237253..123240252,3	MCF-7	breast:
9	chr12:123010150..123011921-chr12:123236546..123238778,2	MCF-7	breast:
10	chr12:122982981..122986123-chr12:123234906..123238729,4	MCF-7	breast:
11	chr12:123237859..123240331-chr12:123248659..123250733,2	K562	blood:
12	chr12:123236013..123238671-chr12:123251016..123252979,2	K562	blood:
13	chr12:123237222..123239251-chr12:123250581..123253691,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256044	TF binding region
ENSG00000033030	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000206914	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000130783	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs34647278	1.00[AMR][1000 genomes]
rs35245907	1.00[AMR][1000 genomes]
rs57023093	1.00[AMR][1000 genomes]
rs59065210	1.00[AMR][1000 genomes]
rs60009235	1.00[AMR][1000 genomes]
rs60448869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60589503	1.00[AMR][1000 genomes]
rs61520028	1.00[AMR][1000 genomes]
rs73406914	1.00[AMR][1000 genomes]
rs73406940	1.00[AMR][1000 genomes]
rs73406948	1.00[AMR][1000 genomes]
rs73406954	1.00[AMR][1000 genomes]
rs73406957	1.00[AMR][1000 genomes]
rs73406959	1.00[AMR][1000 genomes]
rs73406973	1.00[AMR][1000 genomes]
rs73406977	1.00[AMR][1000 genomes]
rs73415564	1.00[AMR][1000 genomes]
rs73421628	1.00[AMR][1000 genomes]
rs73421644	1.00[AMR][1000 genomes]
rs73421649	1.00[AMR][1000 genomes]
rs73421661	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123234600-123238200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:123235600-123238200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr12:123235600-123238200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:123235600-123238200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:123235600-123238200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:123235600-123238200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr12:123236000-123238200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:123236200-123238200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr12:123236600-123238200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:123236600-123238200	Active TSS	Fetal Kidney	kidney
11	chr12:123236600-123238200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr12:123236800-123238200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:123236800-123238200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:123236800-123238200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:123236800-123238200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:123236800-123238200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:123236800-123238200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:123236800-123238200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:123236800-123238200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:123236800-123238200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:123236800-123238200	Active TSS	Aorta	Aorta
22	chr12:123236800-123238200	Active TSS	Ovary	ovary
23	chr12:123236800-123238200	Active TSS	GM12878-XiMat	blood
24	chr12:123236800-123238200	Active TSS	HMEC	breast
25	chr12:123236800-123238200	Active TSS	HSMMtube	muscle
26	chr12:123236800-123238200	Active TSS	NH-A	brain
27	chr12:123236800-123238400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:123236800-123238400	Active TSS	Fetal Muscle Trunk	muscle
29	chr12:123236800-123238400	Active TSS	NHDF-Ad	bronchial
30	chr12:123236800-123238600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:123237000-123238200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr12:123237000-123238200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:123237000-123238200	Active TSS	Lung	lung
34	chr12:123237000-123238400	Bivalent/Poised TSS	HepG2	liver
35	chr12:123237200-123238400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:123237400-123238200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:123237400-123238200	Active TSS	Small Intestine	intestine
38	chr12:123237400-123238400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:123237600-123238200	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr12:123237600-123238200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:123237600-123238400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr12:123237800-123238200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:123237800-123238200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:123237800-123238200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr12:123237800-123238200	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr12:123237800-123238200	Flanking Active TSS	Placenta	Placenta
47	chr12:123237800-123238200	Flanking Active TSS	Fetal Thymus	thymus
48	chr12:123237800-123238200	Flanking Active TSS	Left Ventricle	heart
49	chr12:123237800-123238200	Flanking Active TSS	Pancreas	Pancrea
50	chr12:123237800-123238400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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