Variant report

Variant	rs1148556
Chromosome Location	chr12:57917525-57917526
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	POLR2A	chr12:57916882-57919110	U87	brain:	n/a	n/a
2	POLR2A	chr12:57915733-57918696	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr12:57916844-57917719	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr12:57917038-57917781	GM12878	blood:	n/a	n/a
5	MAZ	chr12:57917426-57917708	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:57916931-57917924	U87	brain:	n/a	n/a
7	NFATC1	chr12:57916980-57917584	GM12878	blood:	n/a	n/a
8	HCFC1	chr12:57915227-57917771	Hela-S3	cervix:	n/a	n/a
9	BCL3	chr12:57916903-57917779	A549	lung:	n/a	chr12:57917163-57917172
10	POLR2A	chr12:57915483-57918252	Hela-S3	cervix:	n/a	n/a
11	REST	chr12:57915218-57917582	H1-neurons	neurons:	n/a	chr12:57916449-57916458 chr12:57915324-57915338 chr12:57916602-57916615
12	BCL3	chr12:57916907-57917922	A549	lung:	n/a	chr12:57917163-57917172
13	POLR2A	chr12:57916867-57917746	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr12:57916912-57917845	HCT-116	colon:	n/a	n/a
15	MTA3	chr12:57916889-57918162	GM12878	blood:	n/a	n/a
16	MAZ	chr12:57915727-57917823	GM12878	blood:	n/a	chr12:57916339-57916349 chr12:57916084-57916093 chr12:57916730-57916740
17	POLR2A	chr12:57911713-57919299	SK-N-MC	brain:	n/a	n/a
18	PML	chr12:57916912-57918215	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:57916947-57917652	Hela-S3	cervix:	n/a	n/a
20	EBF1	chr12:57917238-57917850	GM12878	blood:	n/a	chr12:57917633-57917646 chr12:57917635-57917645 chr12:57917635-57917644 chr12:57917634-57917644 chr12:57917633-57917644
21	POLR2A	chr12:57915797-57918188	Hela-S3	cervix:	n/a	n/a
22	MAX	chr12:57916921-57917537	NB4	blood:	n/a	n/a
23	POLR2A	chr12:57917373-57917789	HepG2	liver:	n/a	n/a
24	TEAD4	chr12:57916833-57917616	K562	blood:	n/a	n/a
25	POLR2A	chr12:57917499-57918427	GM12878	blood:	n/a	n/a
26	CEBPB	chr12:57917224-57917579	IMR90	lung:	n/a	chr12:57917417-57917428 chr12:57917394-57917405
27	MAX	chr12:57917362-57917546	HepG2	liver:	n/a	n/a
28	POLR2A	chr12:57915689-57917735	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr12:57908382-57921207	K562	blood:	n/a	n/a
30	POLR2A	chr12:57917025-57917669	HepG2	liver:	n/a	n/a
31	REST	chr12:57916934-57917718	A549	lung:	n/a	chr12:57917607-57917617
32	CEBPB	chr12:57917223-57917590	HepG2	liver:	n/a	chr12:57917417-57917428 chr12:57917394-57917405
33	RCOR1	chr12:57917524-57917604	GM12878	blood:	n/a	n/a
34	CHD2	chr12:57917400-57917566	K562	blood:	n/a	n/a
35	NFIC	chr12:57917168-57917734	GM12878	blood:	n/a	n/a
36	POLR2A	chr12:57915112-57917615	HL-60	blood:	n/a	n/a
37	POLR2A	chr12:57917100-57917726	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr12:57915375-57927219	K562	blood:	n/a	n/a
39	POLR2A	chr12:57912610-57921102	K562	blood:	n/a	n/a
40	MAZ	chr12:57915522-57917725	IMR90	lung:	n/a	chr12:57916339-57916349 chr12:57916084-57916093 chr12:57916730-57916740
41	STAT5A	chr12:57916978-57918255	GM12878	blood:	n/a	chr12:57917506-57917514
42	CEBPB	chr12:57917245-57917575	K562	blood:	n/a	chr12:57917417-57917428 chr12:57917394-57917405
43	CEBPB	chr12:57917223-57917573	HepG2	liver:	n/a	chr12:57917417-57917428 chr12:57917394-57917405
44	POLR2A	chr12:57915222-57917641	HL-60	blood:	n/a	n/a
45	SIX5	chr12:57916932-57917666	A549	lung:	n/a	n/a
46	POLR2A	chr12:57908062-57920927	K562	blood:	n/a	n/a
47	POLR2A	chr12:57917406-57917639	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr12:57916895-57917793	HepG2	liver:	n/a	n/a
49	CTCF	chr12:57917420-57917570	RPTEC	kidney:	n/a	n/a
50	POLR2A	chr12:57917450-57919020	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57879207..57888227-chr12:57906247..57918451,36	K562	blood:
2	chr12:57915482..57918597-chr12:58119014..58121092,3	MCF-7	breast:
3	chr12:57914556..57917935-chr12:58138142..58139921,3	K562	blood:
4	chr12:57916512..57918954-chr12:58138893..58140769,2	MCF-7	breast:
5	chr12:57915284..57917737-chr12:58135302..58137824,2	K562	blood:
6	chr12:57916469..57918452-chr12:58024223..58025919,2	K562	blood:
7	chr12:57880552..57883318-chr12:57915762..57917586,2	MCF-7	breast:
8	chr12:57082052..57084048-chr12:57915298..57917787,2	K562	blood:
9	chr12:57850154..57858218-chr12:57910899..57919538,20	K562	blood:
10	chr12:57848374..57850176-chr12:57916596..57918121,2	MCF-7	breast:
11	chr12:57916381..57918711-chr12:58131475..58134282,2	MCF-7	breast:
12	chr12:57914860..57917603-chr12:58144909..58148802,3	K562	blood:
13	chr12:57911699..57918406-chr12:58000825..58010019,18	K562	blood:
14	chr12:57889487..57901620-chr12:57907600..57919310,30	K562	blood:
15	chr12:57912818..57918945-chr12:58145879..58149998,6	MCF-7	breast:
16	chr12:57879869..57888452-chr12:57905809..57918310,36	K562	blood:
17	chr12:57881044..57886958-chr12:57910925..57918058,16	MCF-7	breast:
18	chr12:57916409..57919050-chr12:57983099..57985919,3	MCF-7	breast:

Variant related genes	Relation type
DDIT3	TF binding region
MIR616	TF binding region
MBD6	TF binding region
ENSG00000123329	Chromatin interaction
ENSG00000139269	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000255737	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000135452	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000257499	Chromatin interaction
ENSG00000135439	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000111087	Chromatin interaction
ENSG00000178498	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1148552	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1148555	0.90[LWK][hapmap];0.94[MKK][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs11830874	1.00[GIH][hapmap]
rs11831009	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2600003	0.85[GIH][hapmap];0.88[TSI][hapmap]
rs542278	0.85[MKK][hapmap]
rs6581146	1.00[CEU][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs703841	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs775323	0.82[AFR][1000 genomes]
rs7973381	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv469411	chr12:57844049-57921188	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv559032	chr12:57844049-57921188	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
9	nsv559033	chr12:57848639-57946477	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv899119	chr12:57851182-57923451	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
12	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
13	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
14	nsv899120	chr12:57886609-57921188	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
15	esv3429239	chr12:57915210-57918058	Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	41 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57912000-57917600	Active TSS	Psoas Muscle	Psoas
2	chr12:57912400-57918600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:57916000-57917600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:57916000-57917600	Active TSS	Gastric	stomach
5	chr12:57916000-57917600	Active TSS	Ovary	ovary
6	chr12:57916000-57917800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:57916000-57917800	Active TSS	Aorta	Aorta
8	chr12:57916200-57917600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:57916200-57917600	Active TSS	Brain Hippocampus Middle	brain
10	chr12:57916200-57917600	Active TSS	Fetal Kidney	kidney
11	chr12:57916200-57917600	Active TSS	Right Atrium	heart
12	chr12:57916200-57917600	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr12:57916200-57917600	Bivalent/Poised TSS	HepG2	liver
14	chr12:57916200-57917600	Active TSS	HSMM	muscle
15	chr12:57916200-57917800	Active TSS	Lung	lung
16	chr12:57916400-57917600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:57916400-57917600	Active TSS	Muscle Satellite Cultured Cells	--
18	chr12:57916400-57917800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:57917000-57917600	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr12:57917000-57917600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr12:57917000-57917600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:57917000-57917600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:57917000-57917600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr12:57917000-57917600	Flanking Active TSS	Fetal Muscle Trunk	muscle
25	chr12:57917000-57917800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr12:57917000-57917800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr12:57917000-57917800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr12:57917000-57917800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:57917000-57917800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr12:57917000-57917800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:57917000-57917800	Flanking Active TSS	Colonic Mucosa	Colon
32	chr12:57917000-57917800	Flanking Active TSS	Fetal Brain Male	brain
33	chr12:57917000-57917800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr12:57917000-57918000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:57917000-57918000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr12:57917000-57918000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr12:57917000-57918000	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr12:57917000-57918000	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr12:57917000-57918000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr12:57917000-57918000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:57917000-57918000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr12:57917000-57918000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr12:57917000-57918000	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr12:57917000-57918000	Flanking Active TSS	Fetal Brain Female	brain
45	chr12:57917000-57918000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr12:57917000-57918200	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr12:57917000-57918400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr12:57917000-57919000	Transcr. at gene 5' and 3'	Dnd41	blood
49	chr12:57917200-57917600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:57917200-57917600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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