Variant report

Variant	rs545262368
Chromosome Location	chr12:58149842-58149843
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	MAZ	chr12:58149670-58150038	HepG2	liver:	n/a	n/a
2	CHD2	chr12:58149726-58150891	GM12878	blood:	n/a	n/a
3	SIN3AK20	chr12:58149514-58149918	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:58149797-58149945	K562	blood:	n/a	n/a
5	RUNX3	chr12:58149834-58150100	GM12878	blood:	n/a	n/a
6	ZBTB7A	chr12:58149618-58150086	HepG2	liver:	n/a	n/a
7	ZBTB7A	chr12:58148328-58150191	ECC-1	luminal epithelium:	n/a	chr12:58149222-58149231 chr12:58149015-58149023
8	SUZ12	chr12:58149341-58150830	NT2-D1	testis:	n/a	n/a
9	SPI1	chr12:58149824-58150261	GM12891	blood:	n/a	chr12:58150085-58150094
10	HNF4G	chr12:58149554-58149923	HepG2	liver:	n/a	chr12:58149845-58149858 chr12:58149846-58149858 chr12:58149846-58149858 chr12:58149845-58149858 chr12:58149845-58149859 chr12:58149845-58149858 chr12:58149843-58149861
11	ZEB1	chr12:58149302-58150066	GM12878	blood:	n/a	chr12:58149709-58149720 chr12:58149708-58149717
12	POLR2A	chr12:58149531-58150055	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:58149260-58149988	ECC-1	luminal epithelium:	n/a	n/a
14	MYBL2	chr12:58149529-58150327	HepG2	liver:	n/a	n/a
15	MAZ	chr12:58148241-58149884	K562	blood:	n/a	chr12:58149254-58149264
16	TAF1	chr12:58149565-58149971	HepG2	liver:	n/a	n/a
17	TCF3	chr12:58149510-58149850	GM12878	blood:	n/a	n/a
18	UBTF	chr12:58149247-58149922	K562	blood:	n/a	n/a
19	HNF4A	chr12:58149601-58149966	HepG2	liver:	n/a	chr12:58149845-58149858 chr12:58149846-58149858 chr12:58149846-58149858 chr12:58149845-58149858 chr12:58149845-58149859 chr12:58149845-58149858 chr12:58149843-58149861
20	ELK1	chr12:58149774-58149845	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr12:58149539-58150072	HepG2	liver:	n/a	n/a
22	CCNT2	chr12:58149284-58149867	K562	blood:	n/a	chr12:58149290-58149299
23	POLR2A	chr12:58149575-58150067	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr12:58148463-58149842	GM15510	blood:	n/a	n/a
25	POLR2A	chr12:58149603-58150027	HepG2	liver:	n/a	n/a
26	ZBTB7A	chr12:58149750-58149893	HepG2	liver:	n/a	n/a
27	TCF12	chr12:58149262-58149932	ECC-1	luminal epithelium:	n/a	n/a
28	CTCF	chr12:58149800-58149950	GM12873	blood:	n/a	n/a
29	YY1	chr12:58148619-58149950	HepG2	liver:	n/a	chr12:58149247-58149258 chr12:58148739-58148750 chr12:58149290-58149299 chr12:58149012-58149026 chr12:58148887-58148897 chr12:58149072-58149081
30	PML	chr12:58149837-58150944	GM12878	blood:	n/a	chr12:58150178-58150186
31	SP1	chr12:58149618-58150015	HepG2	liver:	n/a	chr12:58149864-58149876 chr12:58149752-58149766 chr12:58149866-58149875 chr12:58149941-58149954 chr12:58149865-58149875
32	UBTF	chr12:58149290-58149893	K562	blood:	n/a	n/a
33	POLR2A	chr12:58149654-58149935	HepG2	liver:	n/a	n/a
34	REST	chr12:58149535-58149993	HepG2	liver:	n/a	chr12:58149694-58149707 chr12:58149680-58149693
35	HA-E2F1	chr12:58149527-58150127	MCF-7	breast:	n/a	chr12:58149739-58149749
36	ZBTB7A	chr12:58148811-58149931	K562	blood:	n/a	chr12:58149222-58149231 chr12:58149015-58149023
37	CTCF	chr12:58149820-58149970	RPTEC	kidney:	n/a	n/a
38	HEY1	chr12:58149427-58150130	HepG2	liver:	n/a	chr12:58149736-58149751
39	TAF1	chr12:58149311-58150078	HepG2	liver:	n/a	n/a
40	POLR2A	chr12:58149594-58150819	MCF10A-Er-Src	breast:	n/a	n/a
41	TCF12	chr12:58149842-58151017	A549	lung:	n/a	n/a
42	CEBPD	chr12:58149494-58150091	HepG2	liver:	n/a	n/a
43	MAX	chr12:58149137-58149885	K562	blood:	n/a	chr12:58149254-58149264
44	HNF4A	chr12:58149697-58150040	HepG2	liver:	n/a	chr12:58149845-58149858 chr12:58149846-58149858 chr12:58149846-58149858 chr12:58149845-58149858 chr12:58149845-58149859 chr12:58149845-58149858 chr12:58149843-58149861
45	POLR2A	chr12:58149553-58149893	H1-neurons	neurons:	n/a	n/a
46	SPI1	chr12:58149740-58150539	GM12878	blood:	n/a	chr12:58150085-58150094 chr12:58150389-58150398 chr12:58150390-58150397
47	ZBTB7A	chr12:58148399-58150126	ECC-1	luminal epithelium:	n/a	chr12:58149222-58149231 chr12:58149015-58149023
48	EBF1	chr12:58149837-58150338	GM12878	blood:	n/a	chr12:58149880-58149889
49	CTCF	chr12:58149800-58149950	HVMF	connective:	n/a	n/a
50	ELF1	chr12:58149232-58149986	GM12878	blood:	n/a	chr12:58149289-58149301

No.	Distal block	Cell Line	Cell type
1	chr12:58026019..58028946-chr12:58148453..58151531,3	K562	blood:
2	chr12:58146971..58149952-chr17:56735164..56736689,2	MCF-7	breast:
3	chr12:57912818..57918945-chr12:58145879..58149998,6	MCF-7	breast:
4	chr12:58148177..58150864-chr12:58195789..58197895,2	MCF-7	breast:
5	chr12:57915614..57917377-chr12:58148904..58151083,2	K562	blood:

Variant related genes	Relation type
CDK4	TF binding region
MARCH9	TF binding region
ENSG00000202077	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000270039	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv559045	chr12:58112189-58165085	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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	58 gene(s)	inside rSNPs	diseases
5	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv899123	chr12:58118248-58155023	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv826384	chr12:58124758-58157850	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers 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	39 gene(s)	inside rSNPs	diseases
8	nsv510601	chr12:58130298-58191925	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
9	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv826386	chr12:58135303-58150535	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	esv3374332	chr12:58147710-58151058	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
12	esv3347201	chr12:58148060-58150608	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58148200-58150000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr12:58148400-58150400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:58148400-58150600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:58148600-58150000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr12:58148600-58150000	Active TSS	Aorta	Aorta
6	chr12:58148600-58150000	Weak transcription	Fetal Heart	heart
7	chr12:58148600-58150000	Active TSS	Ovary	ovary
8	chr12:58148600-58150000	Active TSS	Rectal Smooth Muscle	rectum
9	chr12:58148600-58150000	Active TSS	HSMMtube	muscle
10	chr12:58148600-58150000	Bivalent/Poised TSS	Osteobl	bone
11	chr12:58148600-58150200	Active TSS	Fetal Intestine Large	intestine
12	chr12:58148600-58150200	Active TSS	Right Atrium	heart
13	chr12:58148600-58150200	Active TSS	GM12878-XiMat	blood
14	chr12:58148600-58150600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:58148800-58150000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:58149200-58150200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr12:58149400-58150000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr12:58149400-58150600	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr12:58149600-58150000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:58149600-58150000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:58149600-58150000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr12:58149600-58150000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:58149600-58150000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:58149600-58150000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
25	chr12:58149600-58150000	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr12:58149600-58150000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:58149600-58150000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
28	chr12:58149600-58150000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:58149600-58150000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:58149600-58150000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
31	chr12:58149600-58150200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:58149600-58150200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
33	chr12:58149600-58150200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:58149600-58150200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr12:58149600-58150200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chr12:58149600-58150200	Flanking Active TSS	Psoas Muscle	Psoas
37	chr12:58149600-58150200	Flanking Active TSS	Right Ventricle	heart
38	chr12:58149600-58150200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr12:58149600-58150200	Flanking Active TSS	Dnd41	blood
40	chr12:58149600-58150400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:58149600-58150400	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr12:58149600-58150400	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr12:58149600-58150600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr12:58149600-58150600	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr12:58149600-58150600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:58149600-58150600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr12:58149600-58150600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
48	chr12:58149600-58150600	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr12:58149600-58150800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr12:58149600-58150800	Flanking Active TSS	Primary T cells from cord blood	blood

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