Variant report

Variant	rs143789117
Chromosome Location	chr12:123756879-123756880
allele	C/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	MXI1	chr12:123753684-123757129	IMR90	lung:	n/a	chr12:123755352-123755361
2	POLR2A	chr12:123756555-123757187	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr12:123756597-123756901	GM12878	blood:	n/a	n/a
4	MAZ	chr12:123756491-123757110	GM12878	blood:	n/a	n/a
5	CUX1	chr12:123756719-123757066	K562	blood:	n/a	n/a
6	SP1	chr12:123756559-123757029	H1-hESC	embryonic stem cell:	n/a	chr12:123756678-123756692 chr12:123756683-123756692 chr12:123756917-123756926
7	CHD2	chr12:123756496-123756965	Hela-S3	cervix:	n/a	n/a
8	YY1	chr12:123756123-123756910	ECC-1	luminal epithelium:	n/a	chr12:123756380-123756391
9	TAF1	chr12:123756579-123757064	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr12:123755537-123757196	SK-N-SH	brain:	n/a	chr12:123755750-123755763 chr12:123756337-123756350
11	POLR2A	chr12:123756232-123757115	H1-hESC	embryonic stem cell:	n/a	n/a
12	TBL1XR1	chr12:123756875-123756989	K562	blood:	n/a	n/a
13	ARID3A	chr12:123756709-123756904	K562	blood:	n/a	n/a
14	ZKSCAN1	chr12:123756645-123757194	Hela-S3	cervix:	n/a	n/a
15	ELK1	chr12:123756730-123757065	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr12:123756273-123757175	HepG2	liver:	n/a	n/a
17	TBP	chr12:123756648-123757003	GM12878	blood:	n/a	n/a
18	REST	chr12:123756388-123757200	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr12:123756863-123757059	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr12:123756638-123757278	H1-hESC	embryonic stem cell:	n/a	n/a
21	MXI1	chr12:123751836-123757238	SK-N-SH	brain:	n/a	chr12:123755352-123755361
22	YY1	chr12:123756193-123756970	K562	blood:	n/a	chr12:123756380-123756391
23	NFIC	chr12:123756571-123757068	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr12:123756239-123757058	HepG2	liver:	n/a	n/a
25	TBP	chr12:123756640-123756921	Hela-S3	cervix:	n/a	n/a
26	YY1	chr12:123755583-123756909	HepG2	liver:	n/a	chr12:123755961-123755971 chr12:123755974-123755985 chr12:123755949-123755971 chr12:123755970-123755981 chr12:123755829-123755840 chr12:123755835-123755849 chr12:123756380-123756391
27	RCOR1	chr12:123756674-123756941	Hela-S3	cervix:	n/a	n/a
28	MYBL2	chr12:123756507-123757148	HepG2	liver:	n/a	n/a
29	MAX	chr12:123754550-123757110	A549	lung:	n/a	chr12:123756093-123756102 chr12:123755815-123755825 chr12:123755367-123755376
30	POLR2A	chr12:123756194-123757178	PANC-1	pancreas:	n/a	n/a
31	JUND	chr12:123756700-123756987	K562	blood:	n/a	n/a
32	YY1	chr12:123756201-123757046	SK-N-SH_RA	brain:	n/a	chr12:123756380-123756391
33	TEAD4	chr12:123756568-123757050	K562	blood:	n/a	n/a
34	ZC3H11A	chr12:123756691-123756907	K562	blood:	n/a	n/a
35	POLR2A	chr12:123753773-123757018	HUVEC	blood vessel:	n/a	n/a
36	YY1	chr12:123755642-123756890	GM12891	blood:	n/a	chr12:123755961-123755971 chr12:123755974-123755985 chr12:123755949-123755971 chr12:123755970-123755981 chr12:123755829-123755840 chr12:123755835-123755849 chr12:123756380-123756391
37	SP1	chr12:123756548-123756972	HepG2	liver:	n/a	chr12:123756678-123756692 chr12:123756683-123756692 chr12:123756917-123756926
38	POLR2A	chr12:123755381-123756993	Hela-S3	cervix:	n/a	n/a
39	BCL3	chr12:123756507-123757008	A549	lung:	n/a	chr12:123756611-123756624 chr12:123756617-123756630 chr12:123756618-123756631
40	YY1	chr12:123756111-123756914	ECC-1	luminal epithelium:	n/a	chr12:123756380-123756391
41	YY1	chr12:123756499-123757140	SK-N-SH	brain:	n/a	n/a
42	YY1	chr12:123755640-123756948	SK-N-SH_RA	brain:	n/a	chr12:123755961-123755971 chr12:123755974-123755985 chr12:123755949-123755971 chr12:123755970-123755981 chr12:123755829-123755840 chr12:123755835-123755849 chr12:123756380-123756391
43	POLR2A	chr12:123756233-123757051	HCT-116	colon:	n/a	n/a
44	CHD2	chr12:123756599-123756999	GM12878	blood:	n/a	n/a
45	POLR2A	chr12:123754822-123757189	K562	blood:	n/a	n/a
46	MAZ	chr12:123753736-123757280	IMR90	lung:	n/a	chr12:123756093-123756102 chr12:123754155-123754164 chr12:123755815-123755825 chr12:123755367-123755376 chr12:123754240-123754250
47	TAF1	chr12:123755655-123757077	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr12:123756069-123757201	HUVEC	blood vessel:	n/a	n/a
49	EBF1	chr12:123756718-123756918	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:123756435-123757115	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123755184..123757288-chr12:123772860..123774485,3	K562	blood:
2	chr12:123715831..123718104-chr12:123754466..123757204,4	MCF-7	breast:
3	chr12:123755747..123757789-chr12:123941373..123943090,2	K562	blood:
4	chr12:123717014..123719935-chr12:123753310..123757333,7	K562	blood:
5	chr12:123756182..123757104-chr14:78173946..78174895,2	NB4	blood:
6	chr1:115299292..115301809-chr12:123754705..123757686,2	MCF-7	breast:
7	chr12:123755058..123757440-chr12:124084744..124087456,3	K562	blood:
8	chr12:123753572..123756952-chr12:123872035..123874712,3	MCF-7	breast:
9	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:
10	chr12:123755222..123757665-chr12:123766639..123768783,2	MCF-7	breast:
11	chr12:123754759..123757395-chr12:123866766..123872450,7	MCF-7	breast:
12	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
13	chr12:123449665..123451282-chr12:123753748..123757462,3	MCF-7	breast:
14	chr12:123755164..123758333-chr12:123868507..123873426,5	K562	blood:
15	chr12:123463846..123466792-chr12:123754381..123757110,2	MCF-7	breast:
16	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:
17	chr12:123756249..123757789-chr12:123941373..123944326,2	K562	blood:
18	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
19	chr12:123755830..123757417-chr12:124116609..124118455,2	MCF-7	breast:
20	chr12:123756475..123758463-chr12:123849452..123851589,2	K562	blood:
21	chr12:123755285..123757528-chr12:124068793..124071301,3	MCF-7	breast:
22	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
23	chr12:123718175..123719849-chr12:123755538..123757797,2	MCF-7	breast:
24	chr12:123737049..123739965-chr12:123755070..123757447,2	K562	blood:
25	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:
26	chr12:123755389..123758333-chr12:123866833..123870129,4	K562	blood:

Variant related genes	Relation type
CDK2AP1	TF binding region
ENSG00000130921	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000009307	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000199845	Chromatin interaction
ENSG00000270113	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000119705	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000100601	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS 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 target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	esv3371786	chr12:123753799-123757997	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
6	esv3506414	chr12:123754849-123757572	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	esv3506415	chr12:123754849-123757572	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	esv3441214	chr12:123755024-123757572	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123753600-123757200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr12:123753800-123757000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:123753800-123757000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:123754000-123757000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr12:123754000-123757000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:123754000-123757200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:123754000-123757200	Active TSS	Ovary	ovary
8	chr12:123754000-123757400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr12:123754000-123757600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:123754200-123757000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr12:123754200-123757200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:123754200-123757200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:123754200-123757200	Active TSS	Aorta	Aorta
14	chr12:123754200-123757200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr12:123754200-123757200	Active TSS	HSMM	muscle
16	chr12:123754200-123757400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:123754200-123757400	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:123754800-123757200	Active TSS	Lung	lung
19	chr12:123755000-123757000	Active TSS	Pancreas	Pancrea
20	chr12:123755000-123757200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr12:123755000-123757200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:123755000-123757200	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr12:123755000-123757200	Active TSS	Fetal Brain Female	brain
24	chr12:123755000-123757200	Active TSS	Psoas Muscle	Psoas
25	chr12:123755200-123757200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:123755200-123757200	Active TSS	Left Ventricle	heart
27	chr12:123755200-123757200	Active TSS	Right Ventricle	heart
28	chr12:123755200-123757200	Active TSS	K562	blood
29	chr12:123755400-123757200	Active TSS	Fetal Muscle Trunk	muscle
30	chr12:123755400-123757200	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr12:123755600-123757200	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr12:123756000-123757200	Active TSS	Right Atrium	heart
33	chr12:123756600-123757000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr12:123756600-123757000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:123756600-123757000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr12:123756600-123757000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr12:123756600-123757000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr12:123756600-123757000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:123756600-123757000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:123756600-123757000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:123756600-123757000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr12:123756600-123757000	Flanking Active TSS	Liver	Liver
43	chr12:123756600-123757000	Active TSS	Fetal Lung	lung
44	chr12:123756600-123757000	Flanking Active TSS	GM12878-XiMat	blood
45	chr12:123756600-123757000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr12:123756600-123757000	Active TSS	NHDF-Ad	bronchial
47	chr12:123756600-123757200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:123756600-123757200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:123756600-123757200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr12:123756600-123757200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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