Variant report

Variant	rs571410154
Chromosome Location	chr12:123757019-123757020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:61)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

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	MAZ	chr12:123756491-123757110	GM12878	blood:	n/a	n/a
4	CUX1	chr12:123756719-123757066	K562	blood:	n/a	n/a
5	SP1	chr12:123756559-123757029	H1-hESC	embryonic stem cell:	n/a	chr12:123756678-123756692 chr12:123756683-123756692 chr12:123756917-123756926
6	TAF1	chr12:123756579-123757064	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr12:123755537-123757196	SK-N-SH	brain:	n/a	chr12:123755750-123755763 chr12:123756337-123756350
8	POLR2A	chr12:123756232-123757115	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZKSCAN1	chr12:123756645-123757194	Hela-S3	cervix:	n/a	n/a
10	ELK1	chr12:123756730-123757065	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:123756273-123757175	HepG2	liver:	n/a	n/a
12	RFX5	chr12:123756929-123757113	HepG2	liver:	n/a	n/a
13	REST	chr12:123756388-123757200	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr12:123757006-123757036	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr12:123756863-123757059	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr12:123756638-123757278	H1-hESC	embryonic stem cell:	n/a	n/a
17	MXI1	chr12:123751836-123757238	SK-N-SH	brain:	n/a	chr12:123755352-123755361
18	NFIC	chr12:123756571-123757068	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr12:123756239-123757058	HepG2	liver:	n/a	n/a
20	ZNF384	chr12:123756978-123757044	K562	blood:	n/a	n/a
21	MYBL2	chr12:123756507-123757148	HepG2	liver:	n/a	n/a
22	MAX	chr12:123754550-123757110	A549	lung:	n/a	chr12:123756093-123756102 chr12:123755815-123755825 chr12:123755367-123755376
23	POLR2A	chr12:123756194-123757178	PANC-1	pancreas:	n/a	n/a
24	YY1	chr12:123756201-123757046	SK-N-SH_RA	brain:	n/a	chr12:123756380-123756391
25	TEAD4	chr12:123756568-123757050	K562	blood:	n/a	n/a
26	USF2	chr12:123756927-123757055	Hela-S3	cervix:	n/a	n/a
27	YY1	chr12:123756499-123757140	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr12:123756233-123757051	HCT-116	colon:	n/a	n/a
29	POLR2A	chr12:123754822-123757189	K562	blood:	n/a	n/a
30	MAZ	chr12:123753736-123757280	IMR90	lung:	n/a	chr12:123756093-123756102 chr12:123754155-123754164 chr12:123755815-123755825 chr12:123755367-123755376 chr12:123754240-123754250
31	TAF1	chr12:123755655-123757077	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr12:123756069-123757201	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr12:123756435-123757115	H1-hESC	embryonic stem cell:	n/a	n/a
34	FOSL2	chr12:123756764-123757277	A549	lung:	n/a	n/a
35	POLR2A	chr12:123756085-123757085	MCF-7	breast:	n/a	n/a
36	USF2	chr12:123756799-123757056	K562	blood:	n/a	n/a
37	SP1	chr12:123756518-123757097	A549	lung:	n/a	chr12:123756678-123756692 chr12:123756683-123756692 chr12:123756917-123756926
38	YY1	chr12:123756518-123757028	A549	lung:	n/a	n/a
39	TBP	chr12:123756265-123757029	H1-hESC	embryonic stem cell:	n/a	n/a
40	GTF2F1	chr12:123756623-123757042	Hela-S3	cervix:	n/a	n/a
41	YY1	chr12:123756228-123757028	HepG2	liver:	n/a	chr12:123756380-123756391
42	REST	chr12:123756474-123757252	A549	lung:	n/a	n/a
43	POLR2A	chr12:123752762-123757235	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr12:123756099-123757072	Hela-S3	cervix:	n/a	n/a
45	MTA3	chr12:123756552-123757232	GM12878	blood:	n/a	n/a
46	MAZ	chr12:123756532-123757044	HepG2	liver:	n/a	n/a
47	SP1	chr12:123756389-123757150	A549	lung:	n/a	chr12:123757094-123757106 chr12:123757095-123757105 chr12:123756678-123756692 chr12:123757095-123757109 chr12:123757096-123757105 chr12:123756683-123756692 chr12:123756917-123756926 chr12:123757094-123757106
48	RCOR1	chr12:123756302-123757038	K562	blood:	n/a	n/a
49	POLR2A	chr12:123756220-123757198	SK-N-SH	brain:	n/a	n/a
50	RUNX3	chr12:123756561-123757050	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123757018-123757068	HEK293	kidney:	embryo
2	chr12:123757018-123757068	HL-60	blood:	n/a
3	chr12:123757018-123757068	AoSMC	blood vessel:	n/a
4	chr12:123757018-123757068	Jurkat	blood:	n/a
5	chr12:123757018-123757068	U87	brain:	n/a
6	chr12:123757018-123757068	HAEpiC	amniotic membrane:	n/a
7	chr12:123757018-123757068	H1-hESC	embryonic stem cell:	embryo
8	chr12:123757018-123757068	A549	lung:	n/a
9	chr12:123757018-123757068	IMR90	lung:	fetal
10	chr12:123757018-123757068	HCT-116	colon:	n/a
11	chr12:123757018-123757068	BE2_C	brain:	n/a
12	chr12:123757018-123757068	T-47D	breast:	n/a
13	chr12:123757018-123757068	HCF	heart:	n/a
14	chr12:123757018-123757068	HepG2	liver:	n/a
15	chr12:123757018-123757068	PFSK-1	brain:	n/a
16	chr12:123757018-123757068	HNPCEpiC	eye:	n/a
17	chr12:123757018-123757068	SK-N-SH_RA	brain:	n/a
18	chr12:123757018-123757068	NHDF-neo	bronchial:	n/a
19	chr12:123757018-123757068	RPTEC	kidney:	n/a
20	chr12:123757018-123757068	AG04450	lung:	fetal
21	chr12:123757018-123757068	AG09319	gingival:	n/a
22	chr12:123757018-123757068	HPAEpiC	pulmonary alveolar:	n/a
23	chr12:123757018-123757068	CMK	blood:	n/a
24	chr12:123757018-123757068	HUVEC	blood vessel:	n/a
25	chr12:123757018-123757068	GM12891	blood:	n/a
26	chr12:123757018-123757068	HMEC	breast:	n/a
27	chr12:123757018-123757068	K562	blood:	n/a
28	chr12:123757018-123757068	ECC-1	luminal epithelium:	n/a
29	chr12:123757018-123757068	HIPEpiC	eye:	n/a
30	chr12:123757018-123757068	NB4	blood:	n/a
31	chr12:123757018-123757068	SK-N-SH	brain:	n/a
32	chr12:123757018-123757068	HEEpiC	esophagus:	n/a
33	chr12:123757018-123757068	PrEC	prostate:	n/a
34	chr12:123757018-123757068	NHBE	bronchial:	n/a
35	chr12:123757018-123757068	MCF10A-Er-Src	breast:	n/a
36	chr12:123757018-123757068	SK-N-MC	brain:	n/a
37	chr12:123757018-123757068	Hela-S3	cervix:	n/a
38	chr12:123757018-123757068	SKMC	muscle:	n/a
39	chr12:123757018-123757068	HRPEpiC	eye:	n/a
40	chr12:123757018-123757068	SAEC	small airway:	n/a
41	chr12:123757018-123757068	GM12892	blood:	n/a
42	chr12:123757018-123757068	HRE	kidney:	n/a
43	chr12:123757018-123757068	GM12878	blood:	n/a
44	chr12:123757018-123757068	ovcar-3	ovarian:	n/a
45	chr12:123757018-123757068	NT2-D1	testis:	n/a
46	chr12:123757018-123757068	BJ	skin:	n/a
47	chr12:123757018-123757068	ProgFib	skin:	n/a
48	chr12:123757018-123757068	AG10803	skin:	n/a
49	chr12:123757018-123757068	LNCaP	prostate:	n/a
50	chr12:123757018-123757068	GM19239	blood:	n/a

(count:24 , 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	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:
9	chr12:123755222..123757665-chr12:123766639..123768783,2	MCF-7	breast:
10	chr12:123754759..123757395-chr12:123866766..123872450,7	MCF-7	breast:
11	chr12:123449665..123451282-chr12:123753748..123757462,3	MCF-7	breast:
12	chr12:123755164..123758333-chr12:123868507..123873426,5	K562	blood:
13	chr12:123463846..123466792-chr12:123754381..123757110,2	MCF-7	breast:
14	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:
15	chr12:123756249..123757789-chr12:123941373..123944326,2	K562	blood:
16	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
17	chr12:123755830..123757417-chr12:124116609..124118455,2	MCF-7	breast:
18	chr12:123756475..123758463-chr12:123849452..123851589,2	K562	blood:
19	chr12:123755285..123757528-chr12:124068793..124071301,3	MCF-7	breast:
20	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
21	chr12:123718175..123719849-chr12:123755538..123757797,2	MCF-7	breast:
22	chr12:123737049..123739965-chr12:123755070..123757447,2	K562	blood:
23	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:
24	chr12:123755389..123758333-chr12:123866833..123870129,4	K562	blood:

No data

Variant related genes	Relation type
CDK2AP1	TF binding region
CDK2AP1	CpG island
ENSG00000270113	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000100601	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000199845	Chromatin interaction
ENSG00000119705	Chromatin interaction
ENSG00000009307	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000256092	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:115 , 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	chr12:123754000-123757200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:123754000-123757200	Active TSS	Ovary	ovary
4	chr12:123754000-123757400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:123754000-123757600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:123754200-123757200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:123754200-123757200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:123754200-123757200	Active TSS	Aorta	Aorta
9	chr12:123754200-123757200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr12:123754200-123757200	Active TSS	HSMM	muscle
11	chr12:123754200-123757400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:123754200-123757400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr12:123754800-123757200	Active TSS	Lung	lung
14	chr12:123755000-123757200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr12:123755000-123757200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:123755000-123757200	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr12:123755000-123757200	Active TSS	Fetal Brain Female	brain
18	chr12:123755000-123757200	Active TSS	Psoas Muscle	Psoas
19	chr12:123755200-123757200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:123755200-123757200	Active TSS	Left Ventricle	heart
21	chr12:123755200-123757200	Active TSS	Right Ventricle	heart
22	chr12:123755200-123757200	Active TSS	K562	blood
23	chr12:123755400-123757200	Active TSS	Fetal Muscle Trunk	muscle
24	chr12:123755400-123757200	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr12:123755600-123757200	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr12:123756000-123757200	Active TSS	Right Atrium	heart
27	chr12:123756600-123757200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:123756600-123757200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:123756600-123757200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr12:123756600-123757200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr12:123756600-123757200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr12:123756600-123757200	Flanking Active TSS	Fetal Thymus	thymus
33	chr12:123756600-123757200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr12:123756600-123757200	Flanking Active TSS	Dnd41	blood
35	chr12:123756600-123757200	Flanking Active TSS	HMEC	breast
36	chr12:123756600-123757400	Active TSS	Fetal Kidney	kidney
37	chr12:123756600-123757600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:123756800-123757200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:123756800-123757200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:123756800-123757200	Enhancers	Primary B cells from peripheral blood	blood
41	chr12:123756800-123757200	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr12:123756800-123757200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr12:123756800-123757200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr12:123756800-123757200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:123756800-123757200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr12:123756800-123757200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:123756800-123757200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:123756800-123757200	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr12:123756800-123757200	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr12:123756800-123757200	Flanking Active TSS	Brain Hippocampus Middle	brain

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