Variant report

Variant	rs577806864
Chromosome Location	chr12:123755281-123755282
allele	A/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	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	POLR2A	chr12:123754776-123755399	IMR90	lung:	n/a	n/a
5	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
6	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
7	MAX	chr12:123754784-123755587	K562	blood:	n/a	chr12:123755367-123755376
8	USF1	chr12:123755098-123755504	A549	lung:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268 chr12:123755350-123755361
9	TAF1	chr12:123755221-123755483	H1-hESC	embryonic stem cell:	n/a	n/a
10	USF1	chr12:123755090-123755506	K562	blood:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268 chr12:123755350-123755361
11	CHD1	chr12:123754296-123755530	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZBTB7A	chr12:123754960-123756191	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr12:123754929-123755563	K562	blood:	n/a	n/a
14	USF1	chr12:123755130-123755588	ECC-1	luminal epithelium:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268 chr12:123755350-123755361
15	CTCF	chr12:123755260-123755410	NHLF	lung:	n/a	n/a
16	TAF1	chr12:123754899-123755572	ECC-1	luminal epithelium:	n/a	n/a
17	ZNF143	chr12:123755273-123755945	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:123755228-123756651	NB4	blood:	n/a	n/a
19	E2F6	chr12:123755229-123755476	K562	blood:	n/a	n/a
20	BHLHE40	chr12:123755217-123755827	GM12878	blood:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268
21	MAX	chr12:123754937-123755539	NB4	blood:	n/a	chr12:123755367-123755376
22	POLR2A	chr12:123754858-123756691	GM15510	blood:	n/a	n/a
23	CHD1	chr12:123753598-123756147	IMR90	lung:	n/a	chr12:123754235-123754245
24	MXI1	chr12:123751836-123757238	SK-N-SH	brain:	n/a	chr12:123755352-123755361
25	ZBTB7A	chr12:123755077-123756720	K562	blood:	n/a	chr12:123756519-123756533
26	POLR2A	chr12:123754048-123755477	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr12:123754798-123755433	U87	brain:	n/a	n/a
28	POLR2A	chr12:123754817-123756733	GM18951	blood:	n/a	n/a
29	MXI1	chr12:123754640-123755363	HepG2	liver:	n/a	chr12:123755352-123755361
30	CTCF	chr12:123755160-123755310	HMEC	breast:	n/a	n/a
31	MYC	chr12:123755268-123755362	K562	blood:	n/a	n/a
32	POLR2A	chr12:123755266-123756833	ECC-1	luminal epithelium:	n/a	n/a
33	USF1	chr12:123755224-123755482	GM12878	blood:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268 chr12:123755350-123755361
34	MAX	chr12:123754550-123757110	A549	lung:	n/a	chr12:123756093-123756102 chr12:123755815-123755825 chr12:123755367-123755376
35	USF1	chr12:123755135-123755564	SK-N-SH	brain:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268 chr12:123755350-123755361
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	TAF7	chr12:123755210-123755566	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr12:123753773-123757018	HUVEC	blood vessel:	n/a	n/a
41	USF1	chr12:123755244-123755451	HepG2	liver:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268 chr12:123755350-123755361
42	USF1	chr12:123755140-123755471	SK-N-SH_RA	brain:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268 chr12:123755350-123755361
43	USF1	chr12:123755143-123755582	ECC-1	luminal epithelium:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268 chr12:123755350-123755361
44	POLR2A	chr12:123754629-123755299	HepG2	liver:	n/a	n/a
45	USF1	chr12:123755197-123755515	A549	lung:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268 chr12:123755350-123755361
46	ELF1	chr12:123754916-123755505	GM12878	blood:	n/a	chr12:123755254-123755266 chr12:123755253-123755265
47	USF2	chr12:123755189-123755535	GM12878	blood:	n/a	chr12:123755251-123755267 chr12:123755350-123755361 chr12:123755379-123755395 chr12:123755252-123755268
48	MAX	chr12:123755267-123755492	GM12878	blood:	n/a	chr12:123755367-123755376
49	POLR2A	chr12:123753851-123755460	HepG2	liver:	n/a	n/a
50	EGR1	chr12:123755265-123755490	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123755247-123755297	PFSK-1	brain:	n/a
2	chr12:123755247-123755297	PrEC	prostate:	n/a
3	chr12:123755247-123755297	HMEC	breast:	n/a
4	chr12:123755247-123755297	HAEpiC	amniotic membrane:	n/a
5	chr12:123755247-123755297	HPAEpiC	pulmonary alveolar:	n/a
6	chr12:123755247-123755297	IMR90	lung:	fetal
7	chr12:123755247-123755297	HCM	heart:	n/a
8	chr12:123755247-123755297	SK-N-SH_RA	brain:	n/a
9	chr12:123755247-123755297	HepG2	liver:	n/a
10	chr12:123755247-123755297	HCPEpiC	choroid plexus:	n/a
11	chr12:123755247-123755297	HRE	kidney:	n/a
12	chr12:123755247-123755297	AoSMC	blood vessel:	n/a
13	chr12:123755247-123755297	SK-N-SH	brain:	n/a
14	chr12:123755247-123755297	AG04450	lung:	fetal
15	chr12:123755247-123755297	MCF-7	breast:	n/a
16	chr12:123755247-123755297	ECC-1	luminal epithelium:	n/a
17	chr12:123755247-123755297	AG10803	skin:	n/a
18	chr12:123755247-123755297	T-47D	breast:	n/a
19	chr12:123755247-123755297	NB4	blood:	n/a
20	chr12:123755247-123755297	HL-60	blood:	n/a
21	chr12:123755247-123755297	NH-A	brain:	n/a
22	chr12:123755247-123755297	Hela-S3	cervix:	n/a
23	chr12:123755247-123755297	HRPEpiC	eye:	n/a
24	chr12:123755247-123755297	SKMC	muscle:	n/a
25	chr12:123755247-123755297	PANC-1	pancreas:	n/a
26	chr12:123755247-123755297	GM12878	blood:	n/a
27	chr12:123755247-123755297	K562	blood:	n/a
28	chr12:123755247-123755297	HCF	heart:	n/a
29	chr12:123755247-123755297	GM19239	blood:	n/a
30	chr12:123755247-123755297	AG09309	skin:	n/a
31	chr12:123755247-123755297	GM12892	blood:	n/a
32	chr12:123755247-123755297	U87	brain:	n/a
33	chr12:123755247-123755297	CMK	blood:	n/a
34	chr12:123755247-123755297	ovcar-3	ovarian:	n/a
35	chr12:123755247-123755297	HEK293	kidney:	embryo
36	chr12:123755247-123755297	HCT-116	colon:	n/a
37	chr12:123755247-123755297	HIPEpiC	eye:	n/a
38	chr12:123755247-123755297	A549	lung:	n/a
39	chr12:123755247-123755297	NHBE	bronchial:	n/a
40	chr12:123755247-123755297	Caco-2	colon:	n/a
41	chr12:123755247-123755297	NHDF-neo	bronchial:	n/a
42	chr12:123755247-123755297	HEEpiC	esophagus:	n/a
43	chr12:123755247-123755297	H1-hESC	embryonic stem cell:	embryo
44	chr12:123755247-123755297	SAEC	small airway:	n/a
45	chr12:123755247-123755297	SK-N-MC	brain:	n/a
46	chr12:123755247-123755297	HNPCEpiC	eye:	n/a
47	chr12:123755247-123755297	Jurkat	blood:	n/a
48	chr12:123755247-123755297	BJ	skin:	n/a
49	chr12:123755247-123755297	GM06990	blood:	n/a
50	chr12:123755247-123755297	BE2_C	brain:	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	chr12:123717014..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	chr12:123755058..123757440-chr12:124084744..124087456,3	K562	blood:
7	chr12:123737328..123740075-chr12:123754040..123756567,3	MCF-7	breast:
8	chr12:123753572..123756952-chr12:123872035..123874712,3	MCF-7	breast:
9	chr12:123717152..123717945-chr12:123754812..123755383,2	MCF-7	breast:
10	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:
11	chr12:123755222..123757665-chr12:123766639..123768783,2	MCF-7	breast:
12	chr12:123754759..123757395-chr12:123866766..123872450,7	MCF-7	breast:
13	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
14	chr12:123449665..123451282-chr12:123753748..123757462,3	MCF-7	breast:
15	chr12:123755164..123758333-chr12:123868507..123873426,5	K562	blood:
16	chr12:123753293..123755952-chr12:123766285..123768150,2	MCF-7	breast:
17	chr12:123463846..123466792-chr12:123754381..123757110,2	MCF-7	breast:
18	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:
19	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
20	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
21	chr12:123463187..123465154-chr12:123754619..123756805,2	K562	blood:
22	chr12:123754511..123756318-chr12:123868404..123870683,2	MCF-7	breast:
23	chr12:123753772..123755288-chr12:124118042..124119686,2	MCF-7	breast:
24	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
25	chr12:123754868..123756621-chr12:123942711..123944463,2	MCF-7	breast:
26	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
27	chr12:123737049..123739965-chr12:123755070..123757447,2	K562	blood:
28	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:

Variant related genes	Relation type
CDK2AP1	TF binding region
CDK2AP1	CpG island
ENSG00000182196	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000009307	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000270113	Chromatin interaction
ENSG00000199845	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000139697	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	chr12:123752000-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:123752200-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:123752200-123755600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr12:123752400-123755400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
5	chr12:123752400-123755600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr12:123752400-123755600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr12:123752600-123755400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr12:123752600-123755400	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr12:123753000-123755600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr12:123753000-123756800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:123753200-123755400	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr12:123753400-123755400	Flanking Active TSS	Colonic Mucosa	Colon
13	chr12:123753400-123755600	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr12:123753600-123755400	Flanking Active TSS	Fetal Muscle Trunk	muscle
15	chr12:123753600-123755400	Flanking Active TSS	Fetal Thymus	thymus
16	chr12:123753600-123757200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:123753800-123755400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr12:123753800-123755400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr12:123753800-123755600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr12:123753800-123755600	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr12:123753800-123757000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:123753800-123757000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:123754000-123755400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr12:123754000-123755400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr12:123754000-123755400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr12:123754000-123755400	Flanking Active TSS	Placenta	Placenta
27	chr12:123754000-123755600	Active TSS	Fetal Kidney	kidney
28	chr12:123754000-123756600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:123754000-123756800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:123754000-123756800	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr12:123754000-123756800	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr12:123754000-123756800	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr12:123754000-123756800	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr12:123754000-123756800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:123754000-123756800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:123754000-123756800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:123754000-123756800	Active TSS	Brain Angular Gyrus	brain
38	chr12:123754000-123756800	Active TSS	Gastric	stomach
39	chr12:123754000-123757000	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr12:123754000-123757000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:123754000-123757200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:123754000-123757200	Active TSS	Ovary	ovary
43	chr12:123754000-123757400	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr12:123754000-123757600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:123754200-123755600	Active TSS	Fetal Lung	lung
46	chr12:123754200-123755600	Active TSS	NHDF-Ad	bronchial
47	chr12:123754200-123756800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:123754200-123756800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:123754200-123756800	Active TSS	HSMMtube	muscle
50	chr12:123754200-123757000	Active TSS	H1 Cell Line	embryonic stem cell

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