Variant report

Variant	rs1054403
Chromosome Location	chr12:57908583-57908584
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57908567-57910142	MCF10A-Er-Src	breast:	n/a	n/a
2	JUND	chr12:57908393-57911701	HCT-116	colon:	n/a	chr12:57910968-57910977
3	POLR2A	chr12:57908490-57909244	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:57908101-57916508	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr12:57907839-57915181	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr12:57908478-57911630	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:57908399-57911468	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:57908565-57908599	ProgFib	skin:	n/a	n/a
9	POLR2A	chr12:57908140-57911521	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr12:57908340-57911670	GM12891	blood:	n/a	n/a
11	MTA3	chr12:57908394-57909287	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:57908219-57914828	A549	lung:	n/a	n/a
13	POLR2A	chr12:57904506-57914962	K562	blood:	n/a	n/a
14	POLR2A	chr12:57908236-57914960	HepG2	liver:	n/a	n/a
15	POLR2A	chr12:57908320-57909996	GM12891	blood:	n/a	n/a
16	POLR2A	chr12:57908014-57914558	U87	brain:	n/a	n/a
17	POLR2A	chr12:57908524-57908635	A549	lung:	n/a	n/a
18	POLR2A	chr12:57908255-57914954	IMR90	lung:	n/a	n/a
19	USF2	chr12:57908203-57911431	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:57908390-57911582	K562	blood:	n/a	n/a
21	TEAD4	chr12:57908274-57908965	K562	blood:	n/a	n/a
22	POLR2A	chr12:57908093-57915086	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr12:57908382-57921207	K562	blood:	n/a	n/a
24	POLR2A	chr12:57908576-57908597	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr12:57908268-57914527	GM12878	blood:	n/a	n/a
26	TEAD4	chr12:57908193-57911650	K562	blood:	n/a	n/a
27	POLR2A	chr12:57908090-57915139	K562	blood:	n/a	n/a
28	SPI1	chr12:57908364-57908589	K562	blood:	n/a	chr12:57908475-57908488 chr12:57908457-57908470
29	POLR2A	chr12:57908358-57909327	GM12892	blood:	n/a	n/a
30	HEY1	chr12:57908353-57911297	HepG2	liver:	n/a	n/a
31	POLR2A	chr12:57908487-57909710	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr12:57908180-57911486	GM12891	blood:	n/a	n/a
33	POLR2A	chr12:57908195-57911683	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr12:57908436-57909204	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:57908443-57911694	HepG2	liver:	n/a	n/a
36	ZMIZ1	chr12:57908460-57911396	K562	blood:	n/a	n/a
37	POLR2A	chr12:57908424-57912495	K562	blood:	n/a	n/a
38	POLR2A	chr12:57908046-57911654	U87	brain:	n/a	n/a
39	POLR2A	chr12:57908062-57920927	K562	blood:	n/a	n/a
40	POLR2A	chr12:57908262-57912570	K562	blood:	n/a	n/a
41	POLR2A	chr12:57908188-57914911	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr12:57908378-57909201	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr12:57908260-57911443	GM12892	blood:	n/a	n/a
44	SPI1	chr12:57908265-57908700	HL-60	blood:	n/a	chr12:57908475-57908488 chr12:57908457-57908470
45	POLR2A	chr12:57908288-57911552	HCT-116	colon:	n/a	n/a
46	POLR2A	chr12:57908279-57911553	GM12892	blood:	n/a	n/a
47	POLR2A	chr12:57908522-57909722	GM12878	blood:	n/a	n/a
48	POLR2A	chr12:57907934-57915067	U87	brain:	n/a	n/a
49	PML	chr12:57908280-57911714	K562	blood:	n/a	n/a
50	POLR2A	chr12:57908295-57911607	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57879207..57888227-chr12:57906247..57918451,36	K562	blood:
2	chr12:57907013..57909948-chr12:58087318..58089281,2	K562	blood:
3	chr12:57889487..57901620-chr12:57907600..57919310,30	K562	blood:
4	chr12:57892733..57897365-chr12:57908296..57912099,4	MCF-7	breast:
5	chr12:57879869..57888452-chr12:57905809..57918310,36	K562	blood:

No data

Variant related genes	Relation type
MARS	TF binding region
ENSG00000166986	Chromatin interaction
ENSG00000123329	Chromatin interaction
ENSG00000135506	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2229300	1.00[MEX][hapmap]
rs7974137	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57883000-57910600	Weak transcription	Right Atrium	heart
2	chr12:57883200-57911200	Strong transcription	Fetal Intestine Small	intestine
3	chr12:57885600-57911200	Weak transcription	Fetal Heart	heart
4	chr12:57888600-57912200	Strong transcription	Fetal Stomach	stomach
5	chr12:57892800-57908600	Weak transcription	Stomach Mucosa	stomach
6	chr12:57900600-57912000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:57900600-57912800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:57901600-57910600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:57901600-57911000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:57901600-57911800	Strong transcription	Lung	lung
11	chr12:57901800-57911600	Strong transcription	Thymus	Thymus
12	chr12:57901800-57911800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:57901800-57911800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr12:57902000-57912400	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr12:57902200-57909800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:57902200-57910000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:57902200-57910600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:57902200-57911600	Strong transcription	Fetal Muscle Leg	muscle
19	chr12:57902200-57912000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:57902200-57912000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:57902200-57912400	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr12:57902400-57910400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:57902400-57910800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:57902400-57910800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:57902400-57911000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:57902400-57911200	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:57902400-57911600	Strong transcription	Fetal Thymus	thymus
28	chr12:57902400-57911800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:57902400-57911800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:57902400-57912000	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:57902400-57912000	Strong transcription	Primary B cells from cord blood	blood
32	chr12:57902400-57912000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:57902400-57912000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:57902400-57912000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:57902400-57912200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:57902400-57912200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:57902400-57912400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:57902400-57912800	Strong transcription	Fetal Brain Female	brain
39	chr12:57902600-57910400	Strong transcription	Dnd41	blood
40	chr12:57902600-57910600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:57902600-57910600	Strong transcription	Liver	Liver
42	chr12:57902600-57910800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:57902600-57911000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:57902600-57911000	Strong transcription	Adipose Nuclei	Adipose
45	chr12:57902600-57911200	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr12:57902600-57911200	Strong transcription	HSMM	muscle
47	chr12:57902600-57911600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:57902600-57911800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:57902600-57911800	Strong transcription	HepG2	liver
50	chr12:57902600-57912000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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