Variant report

Variant	rs563696187
Chromosome Location	chr12:123756764-123756765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:126)
CpG islands
(count:183)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr12:123754804-123756878	NB4	blood:	n/a	chr12:123756093-123756102 chr12:123755815-123755825 chr12:123755367-123755376
2	MXI1	chr12:123753684-123757129	IMR90	lung:	n/a	chr12:123755352-123755361
3	POLR2A	chr12:123756555-123757187	PANC-1	pancreas:	n/a	n/a
4	YY1	chr12:123755275-123756830	K562	blood:	n/a	chr12:123755547-123755558 chr12:123755961-123755971 chr12:123755974-123755985 chr12:123755949-123755971 chr12:123755970-123755981 chr12:123755829-123755840 chr12:123755835-123755849 chr12:123756380-123756391
5	POLR2A	chr12:123756597-123756901	GM12878	blood:	n/a	n/a
6	MAZ	chr12:123756491-123757110	GM12878	blood:	n/a	n/a
7	HA-E2F1	chr12:123755036-123756765	Hela-S3	cervix:	n/a	chr12:123756365-123756375 chr12:123756315-123756324 chr12:123756346-123756356 chr12:123756619-123756629 chr12:123756343-123756353 chr12:123755967-123755977
8	CUX1	chr12:123756719-123757066	K562	blood:	n/a	n/a
9	MYC	chr12:123756609-123756822	K562	blood:	n/a	n/a
10	SP1	chr12:123756559-123757029	H1-hESC	embryonic stem cell:	n/a	chr12:123756678-123756692 chr12:123756683-123756692 chr12:123756917-123756926
11	CHD2	chr12:123756496-123756965	Hela-S3	cervix:	n/a	n/a
12	YY1	chr12:123756123-123756910	ECC-1	luminal epithelium:	n/a	chr12:123756380-123756391
13	TAF1	chr12:123756579-123757064	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr12:123755537-123757196	SK-N-SH	brain:	n/a	chr12:123755750-123755763 chr12:123756337-123756350
15	POLR2A	chr12:123756303-123756770	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr12:123756232-123757115	H1-hESC	embryonic stem cell:	n/a	n/a
17	ARID3A	chr12:123756709-123756904	K562	blood:	n/a	n/a
18	STAT1	chr12:123756724-123756775	GM12878	blood:	n/a	n/a
19	ZKSCAN1	chr12:123756645-123757194	Hela-S3	cervix:	n/a	n/a
20	ELK1	chr12:123756730-123757065	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr12:123756273-123757175	HepG2	liver:	n/a	n/a
22	TBP	chr12:123756648-123757003	GM12878	blood:	n/a	n/a
23	REST	chr12:123756388-123757200	H1-neurons	neurons:	n/a	n/a
24	RCOR1	chr12:123756746-123756803	K562	blood:	n/a	n/a
25	CHD1	chr12:123756638-123757278	H1-hESC	embryonic stem cell:	n/a	n/a
26	MXI1	chr12:123751836-123757238	SK-N-SH	brain:	n/a	chr12:123755352-123755361
27	YY1	chr12:123756193-123756970	K562	blood:	n/a	chr12:123756380-123756391
28	NFIC	chr12:123756571-123757068	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr12:123756239-123757058	HepG2	liver:	n/a	n/a
30	TBP	chr12:123756640-123756921	Hela-S3	cervix:	n/a	n/a
31	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
32	FOXA1	chr12:123756219-123756846	T-47D	breast:	n/a	n/a
33	HEY1	chr12:123756183-123756864	HepG2	liver:	n/a	chr12:123756369-123756384 chr12:123756378-123756393 chr12:123756305-123756320
34	RCOR1	chr12:123756674-123756941	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr12:123755266-123756833	ECC-1	luminal epithelium:	n/a	n/a
36	MYBL2	chr12:123756507-123757148	HepG2	liver:	n/a	n/a
37	MAX	chr12:123754550-123757110	A549	lung:	n/a	chr12:123756093-123756102 chr12:123755815-123755825 chr12:123755367-123755376
38	POLR2A	chr12:123756094-123756772	K562	blood:	n/a	n/a
39	POLR2A	chr12:123756194-123757178	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr12:123756244-123756806	MCF10A-Er-Src	breast:	n/a	n/a
41	JUND	chr12:123756700-123756987	K562	blood:	n/a	n/a
42	POLR2A	chr12:123756227-123756849	Hela-S3	cervix:	n/a	n/a
43	TAF7	chr12:123756104-123756859	H1-hESC	embryonic stem cell:	n/a	n/a
44	YY1	chr12:123756201-123757046	SK-N-SH_RA	brain:	n/a	chr12:123756380-123756391
45	MYC	chr12:123756733-123756877	MCF10A-Er-Src	breast:	n/a	n/a
46	SIN3AK20	chr12:123756198-123756850	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr12:123756228-123756860	HCT-116	colon:	n/a	n/a
48	TEAD4	chr12:123756568-123757050	K562	blood:	n/a	n/a
49	POLR2A	chr12:123755921-123756870	ProgFib	skin:	n/a	n/a
50	ZC3H11A	chr12:123756691-123756907	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123756739-123756789	HCT-116	colon:	n/a
2	chr12:123756720-123756770	T-47D	breast:	n/a
3	chr12:123756755-123756805	AG10803	skin:	n/a
4	chr12:123756739-123756789	HCPEpiC	choroid plexus:	n/a
5	chr12:123756720-123756770	K562	blood:	n/a
6	chr12:123756755-123756805	HIPEpiC	eye:	n/a
7	chr12:123756755-123756805	Hepatocyte	liver:	n/a
8	chr12:123756739-123756789	LNCaP	prostate:	n/a
9	chr12:123756739-123756789	NHBE	bronchial:	n/a
10	chr12:123756755-123756805	AG04450	lung:	fetal
11	chr12:123756755-123756805	NB4	blood:	n/a
12	chr12:123756739-123756789	HCF	heart:	n/a
13	chr12:123756720-123756770	HRCEpiC	kidney:	n/a
14	chr12:123756755-123756805	SK-N-SH_RA	brain:	n/a
15	chr12:123756755-123756805	PrEC	prostate:	n/a
16	chr12:123756720-123756770	HMEC	breast:	n/a
17	chr12:123756720-123756770	AoSMC	blood vessel:	n/a
18	chr12:123756720-123756770	GM12892	blood:	n/a
19	chr12:123756720-123756770	Hepatocyte	liver:	n/a
20	chr12:123756755-123756805	U87	brain:	n/a
21	chr12:123756755-123756805	HCT-116	colon:	n/a
22	chr12:123756739-123756789	HCM	heart:	n/a
23	chr12:123756720-123756770	HCPEpiC	choroid plexus:	n/a
24	chr12:123756720-123756770	AG09309	skin:	n/a
25	chr12:123756739-123756789	PFSK-1	brain:	n/a
26	chr12:123756739-123756789	H1-hESC	embryonic stem cell:	embryo
27	chr12:123756720-123756770	GM06990	blood:	n/a
28	chr12:123756755-123756805	HRPEpiC	eye:	n/a
29	chr12:123756720-123756770	HAEpiC	amniotic membrane:	n/a
30	chr12:123756755-123756805	HNPCEpiC	eye:	n/a
31	chr12:123756739-123756789	HL-60	blood:	n/a
32	chr12:123756755-123756805	IMR90	lung:	fetal
33	chr12:123756755-123756805	GM12892	blood:	n/a
34	chr12:123756720-123756770	H1-hESC	embryonic stem cell:	embryo
35	chr12:123756720-123756770	BJ	skin:	n/a
36	chr12:123756720-123756770	GM19239	blood:	n/a
37	chr12:123756720-123756770	NB4	blood:	n/a
38	chr12:123756739-123756789	GM19239	blood:	n/a
39	chr12:123756739-123756789	U87	brain:	n/a
40	chr12:123756755-123756805	AG09319	gingival:	n/a
41	chr12:123756755-123756805	HUVEC	blood vessel:	n/a
42	chr12:123756720-123756770	HNPCEpiC	eye:	n/a
43	chr12:123756755-123756805	HepG2	liver:	n/a
44	chr12:123756720-123756770	HUVEC	blood vessel:	n/a
45	chr12:123756739-123756789	BJ	skin:	n/a
46	chr12:123756739-123756789	HRPEpiC	eye:	n/a
47	chr12:123756720-123756770	MCF10A-Er-Src	breast:	n/a
48	chr12:123756755-123756805	AoSMC	blood vessel:	n/a
49	chr12:123756739-123756789	ovcar-3	ovarian:	n/a
50	chr12:123756720-123756770	Caco-2	colon:	n/a

(count:28 , 50 per page) page: 1

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	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
19	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
20	chr12:123755830..123757417-chr12:124116609..124118455,2	MCF-7	breast:
21	chr12:123463187..123465154-chr12:123754619..123756805,2	K562	blood:
22	chr12:123756475..123758463-chr12:123849452..123851589,2	K562	blood:
23	chr12:123755285..123757528-chr12:124068793..124071301,3	MCF-7	breast:
24	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
25	chr12:123718175..123719849-chr12:123755538..123757797,2	MCF-7	breast:
26	chr12:123737049..123739965-chr12:123755070..123757447,2	K562	blood:
27	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:
28	chr12:123755389..123758333-chr12:123866833..123870129,4	K562	blood:

No data

Variant related genes	Relation type
CDK2AP1	TF binding region
CDK2AP1	CpG island
ENSG00000182196	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000199845	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000009307	Chromatin interaction
ENSG00000119705	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000100601	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000270113	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123753000-123756800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:123753600-123757200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr12:123753800-123757000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:123753800-123757000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:123754000-123756800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:123754000-123756800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr12:123754000-123756800	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr12:123754000-123756800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr12:123754000-123756800	Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr12:123754000-123756800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:123754000-123756800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:123754000-123756800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:123754000-123756800	Active TSS	Brain Angular Gyrus	brain
14	chr12:123754000-123756800	Active TSS	Gastric	stomach
15	chr12:123754000-123757000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr12:123754000-123757000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:123754000-123757200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:123754000-123757200	Active TSS	Ovary	ovary
19	chr12:123754000-123757400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr12:123754000-123757600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:123754200-123756800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:123754200-123756800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:123754200-123756800	Active TSS	HSMMtube	muscle
24	chr12:123754200-123757000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr12:123754200-123757200	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr12:123754200-123757200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:123754200-123757200	Active TSS	Aorta	Aorta
28	chr12:123754200-123757200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr12:123754200-123757200	Active TSS	HSMM	muscle
30	chr12:123754200-123757400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:123754200-123757400	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr12:123754600-123756800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:123754600-123756800	Active TSS	Small Intestine	intestine
34	chr12:123754800-123756800	Active TSS	Muscle Satellite Cultured Cells	--
35	chr12:123754800-123757200	Active TSS	Lung	lung
36	chr12:123755000-123756800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:123755000-123756800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:123755000-123756800	Active TSS	Fetal Intestine Small	intestine
39	chr12:123755000-123756800	Active TSS	Fetal Stomach	stomach
40	chr12:123755000-123756800	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr12:123755000-123756800	Active TSS	Thymus	Thymus
42	chr12:123755000-123756800	Active TSS	A549	lung
43	chr12:123755000-123756800	Active TSS	Hela-S3	cervix
44	chr12:123755000-123756800	Active TSS	HUVEC	blood vessel
45	chr12:123755000-123756800	Active TSS	NH-A	brain
46	chr12:123755000-123756800	Active TSS	NHLF	lung
47	chr12:123755000-123756800	Active TSS	Osteobl	bone
48	chr12:123755000-123757000	Active TSS	Pancreas	Pancrea
49	chr12:123755000-123757200	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr12:123755000-123757200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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