Variant report

Variant	rs570355949
Chromosome Location	chr12:123755018-123755019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:61)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

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	chr12:123754236-123755597	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYBL2	chr12:123754619-123755071	HepG2	liver:	n/a	n/a
5	FOXA1	chr12:123754563-123755107	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:123754776-123755399	IMR90	lung:	n/a	n/a
7	MAX	chr12:123754784-123755587	K562	blood:	n/a	chr12:123755367-123755376
8	POLR2A	chr12:123754881-123755146	Hela-S3	cervix:	n/a	n/a
9	FOXA1	chr12:123754458-123755130	HepG2	liver:	n/a	n/a
10	TBP	chr12:123754513-123755121	HepG2	liver:	n/a	n/a
11	SP1	chr12:123754595-123755064	HepG2	liver:	n/a	n/a
12	CHD1	chr12:123754296-123755530	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZBTB7A	chr12:123754960-123756191	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr12:123754929-123755563	K562	blood:	n/a	n/a
15	TAF1	chr12:123754899-123755572	ECC-1	luminal epithelium:	n/a	n/a
16	TAF1	chr12:123754955-123755229	SK-N-SH	brain:	n/a	n/a
17	MAX	chr12:123754937-123755539	NB4	blood:	n/a	chr12:123755367-123755376
18	POLR2A	chr12:123754858-123756691	GM15510	blood:	n/a	n/a
19	CHD1	chr12:123753598-123756147	IMR90	lung:	n/a	chr12:123754235-123754245
20	POLR2A	chr12:123754977-123755142	SK-N-SH	brain:	n/a	n/a
21	RUNX3	chr12:123754645-123755048	GM12878	blood:	n/a	n/a
22	MXI1	chr12:123751836-123757238	SK-N-SH	brain:	n/a	chr12:123755352-123755361
23	WRNIP1	chr12:123754742-123755097	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:123754849-123755241	HepG2	liver:	n/a	n/a
25	FOXA2	chr12:123754564-123755042	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:123754048-123755477	SK-N-MC	brain:	n/a	n/a
27	TAF1	chr12:123754884-123755105	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr12:123754798-123755433	U87	brain:	n/a	n/a
29	POLR2A	chr12:123754817-123756733	GM18951	blood:	n/a	n/a
30	MXI1	chr12:123754640-123755363	HepG2	liver:	n/a	chr12:123755352-123755361
31	MYBL2	chr12:123754506-123755138	HepG2	liver:	n/a	n/a
32	SIN3AK20	chr12:123754836-123755233	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:123753844-123755161	H1-neurons	neurons:	n/a	n/a
34	MAX	chr12:123754550-123757110	A549	lung:	n/a	chr12:123756093-123756102 chr12:123755815-123755825 chr12:123755367-123755376
35	POLR2A	chr12:123754911-123755269	GM12878	blood:	n/a	n/a
36	MTA3	chr12:123754371-123755603	GM12878	blood:	n/a	n/a
37	MAZ	chr12:123754025-123755284	HepG2	liver:	n/a	chr12:123754155-123754164 chr12:123754240-123754250
38	POLR2A	chr12:123754837-123755308	ProgFib	skin:	n/a	n/a
39	RFX5	chr12:123754636-123755020	Hela-S3	cervix:	n/a	chr12:123754722-123754731
40	MXI1	chr12:123754974-123755197	Hela-S3	cervix:	n/a	n/a
41	HEY1	chr12:123754975-123755224	HepG2	liver:	n/a	n/a
42	POLR2A	chr12:123753773-123757018	HUVEC	blood vessel:	n/a	n/a
43	FOXA1	chr12:123754627-123755085	HepG2	liver:	n/a	n/a
44	NFIC	chr12:123754623-123755097	HepG2	liver:	n/a	n/a
45	POLR2A	chr12:123754629-123755299	HepG2	liver:	n/a	n/a
46	ELF1	chr12:123754916-123755505	GM12878	blood:	n/a	chr12:123755254-123755266 chr12:123755253-123755265
47	POLR2A	chr12:123753851-123755460	HepG2	liver:	n/a	n/a
48	MAX	chr12:123754708-123755533	ECC-1	luminal epithelium:	n/a	chr12:123755367-123755376
49	POLR2A	chr12:123754804-123755433	U87	brain:	n/a	n/a
50	POLR2A	chr12:123754822-123757189	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123755018-123755068	IMR90	lung:	fetal
2	chr12:123755018-123755068	HAEpiC	amniotic membrane:	n/a
3	chr12:123755018-123755068	GM12878	blood:	n/a
4	chr12:123755018-123755068	HNPCEpiC	eye:	n/a
5	chr12:123755018-123755068	T-47D	breast:	n/a
6	chr12:123755018-123755068	SK-N-SH_RA	brain:	n/a
7	chr12:123755018-123755068	A549	lung:	n/a
8	chr12:123755018-123755068	U87	brain:	n/a
9	chr12:123755018-123755068	NH-A	brain:	n/a
10	chr12:123755018-123755068	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:123755018-123755068	SAEC	small airway:	n/a
12	chr12:123755018-123755068	SK-N-MC	brain:	n/a
13	chr12:123755018-123755068	HMEC	breast:	n/a
14	chr12:123755018-123755068	NHDF-neo	bronchial:	n/a
15	chr12:123755018-123755068	GM12891	blood:	n/a
16	chr12:123755018-123755068	NHBE	bronchial:	n/a
17	chr12:123755018-123755068	BE2_C	brain:	n/a
18	chr12:123755018-123755068	PrEC	prostate:	n/a
19	chr12:123755018-123755068	AG04449	skin:	fetal
20	chr12:123755018-123755068	ECC-1	luminal epithelium:	n/a
21	chr12:123755018-123755068	BJ	skin:	n/a
22	chr12:123755018-123755068	HIPEpiC	eye:	n/a
23	chr12:123755018-123755068	HCM	heart:	n/a
24	chr12:123755018-123755068	Caco-2	colon:	n/a
25	chr12:123755018-123755068	K562	blood:	n/a
26	chr12:123755018-123755068	Jurkat	blood:	n/a
27	chr12:123755018-123755068	HEK293	kidney:	embryo
28	chr12:123755018-123755068	Hela-S3	cervix:	n/a
29	chr12:123755018-123755068	HRCEpiC	kidney:	n/a
30	chr12:123755018-123755068	HCF	heart:	n/a
31	chr12:123755018-123755068	AG10803	skin:	n/a
32	chr12:123755018-123755068	MCF-7	breast:	n/a
33	chr12:123755018-123755068	GM06990	blood:	n/a
34	chr12:123755018-123755068	ProgFib	skin:	n/a
35	chr12:123755018-123755068	RPTEC	kidney:	n/a
36	chr12:123755018-123755068	HCT-116	colon:	n/a
37	chr12:123755018-123755068	AG09319	gingival:	n/a
38	chr12:123755018-123755068	MCF10A-Er-Src	breast:	n/a
39	chr12:123755018-123755068	AG09309	skin:	n/a
40	chr12:123755018-123755068	H1-hESC	embryonic stem cell:	embryo
41	chr12:123755018-123755068	HUVEC	blood vessel:	n/a
42	chr12:123755018-123755068	HepG2	liver:	n/a
43	chr12:123755018-123755068	CMK	blood:	n/a
44	chr12:123755018-123755068	GM12892	blood:	n/a
45	chr12:123755018-123755068	GM19239	blood:	n/a
46	chr12:123755018-123755068	ovcar-3	ovarian:	n/a
47	chr12:123755018-123755068	HCPEpiC	choroid plexus:	n/a
48	chr12:123755018-123755068	NT2-D1	testis:	n/a
49	chr12:123755018-123755068	SKMC	muscle:	n/a
50	chr12:123755018-123755068	AG04450	lung:	fetal

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123715831..123718104-chr12:123754466..123757204,4	MCF-7	breast:
2	chr12:123753500..123755086-chr12:124068992..124070507,2	MCF-7	breast:
3	chr12:123717014..123719935-chr12:123753310..123757333,7	K562	blood:
4	chr12:123754032..123756441-chr12:123848296..123851530,6	K562	blood:
5	chr1:115299292..115301809-chr12:123754705..123757686,2	MCF-7	breast:
6	chr12:123737328..123740075-chr12:123754040..123756567,3	MCF-7	breast:
7	chr12:123753572..123756952-chr12:123872035..123874712,3	MCF-7	breast:
8	chr12:123717152..123717945-chr12:123754812..123755383,2	MCF-7	breast:
9	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:
10	chr12:123754759..123757395-chr12:123866766..123872450,7	MCF-7	breast:
11	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
12	chr12:123449665..123451282-chr12:123753748..123757462,3	MCF-7	breast:
13	chr12:123753293..123755952-chr12:123766285..123768150,2	MCF-7	breast:
14	chr12:123463846..123466792-chr12:123754381..123757110,2	MCF-7	breast:
15	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:
16	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
17	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
18	chr12:123463187..123465154-chr12:123754619..123756805,2	K562	blood:
19	chr12:123754511..123756318-chr12:123868404..123870683,2	MCF-7	breast:
20	chr12:123753772..123755288-chr12:124118042..124119686,2	MCF-7	breast:
21	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
22	chr12:123754868..123756621-chr12:123942711..123944463,2	MCF-7	breast:
23	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
24	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:

No data

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

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123752000-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:123752200-123755200	Flanking Active TSS	Fetal Muscle Leg	muscle
3	chr12:123752200-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:123752200-123755600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:123752400-123755400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr12:123752400-123755600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr12:123752400-123755600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr12:123752600-123755400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr12:123752600-123755400	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr12:123753000-123755600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr12:123753000-123756800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:123753200-123755400	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr12:123753400-123755400	Flanking Active TSS	Colonic Mucosa	Colon
14	chr12:123753400-123755600	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr12:123753600-123755200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:123753600-123755400	Flanking Active TSS	Fetal Muscle Trunk	muscle
17	chr12:123753600-123755400	Flanking Active TSS	Fetal Thymus	thymus
18	chr12:123753600-123757200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr12:123753800-123755200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:123753800-123755400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr12:123753800-123755400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr12:123753800-123755600	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr12:123753800-123755600	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr12:123753800-123757000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:123753800-123757000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:123754000-123755400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr12:123754000-123755400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr12:123754000-123755400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr12:123754000-123755400	Flanking Active TSS	Placenta	Placenta
30	chr12:123754000-123755600	Active TSS	Fetal Kidney	kidney
31	chr12:123754000-123756600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:123754000-123756800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:123754000-123756800	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr12:123754000-123756800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr12:123754000-123756800	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr12:123754000-123756800	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr12:123754000-123756800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:123754000-123756800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:123754000-123756800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:123754000-123756800	Active TSS	Brain Angular Gyrus	brain
41	chr12:123754000-123756800	Active TSS	Gastric	stomach
42	chr12:123754000-123757000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr12:123754000-123757000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:123754000-123757200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:123754000-123757200	Active TSS	Ovary	ovary
46	chr12:123754000-123757400	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr12:123754000-123757600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:123754200-123755200	Flanking Active TSS	NHEK	skin
49	chr12:123754200-123755600	Active TSS	Fetal Lung	lung
50	chr12:123754200-123755600	Active TSS	NHDF-Ad	bronchial

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