Variant report

Variant	rs139263519
Chromosome Location	chr12:123755464-123755465
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	CTCF	chr12:123755340-123755490	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:123754236-123755597	H1-hESC	embryonic stem cell:	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	CTCF	chr12:123755340-123755490	HCM	heart:	n/a	n/a
11	USF1	chr12:123755090-123755506	K562	blood:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268 chr12:123755350-123755361
12	CTCF	chr12:123755402-123755487	GM12891	blood:	n/a	n/a
13	POLR2A	chr12:123755297-123755540	GM12878	blood:	n/a	n/a
14	CHD1	chr12:123754296-123755530	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZBTB7A	chr12:123754960-123756191	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr12:123754929-123755563	K562	blood:	n/a	n/a
17	USF1	chr12:123755130-123755588	ECC-1	luminal epithelium:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268 chr12:123755350-123755361
18	POLR2A	chr12:123755305-123755497	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF1	chr12:123754899-123755572	ECC-1	luminal epithelium:	n/a	n/a
20	ZNF143	chr12:123755273-123755945	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:123755228-123756651	NB4	blood:	n/a	n/a
22	E2F6	chr12:123755229-123755476	K562	blood:	n/a	n/a
23	BHLHE40	chr12:123755217-123755827	GM12878	blood:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268
24	MAX	chr12:123754937-123755539	NB4	blood:	n/a	chr12:123755367-123755376
25	POLR2A	chr12:123754858-123756691	GM15510	blood:	n/a	n/a
26	CHD1	chr12:123753598-123756147	IMR90	lung:	n/a	chr12:123754235-123754245
27	MXI1	chr12:123751836-123757238	SK-N-SH	brain:	n/a	chr12:123755352-123755361
28	POLR2A	chr12:123755285-123755561	H1-hESC	embryonic stem cell:	n/a	n/a
29	ZBTB7A	chr12:123755077-123756720	K562	blood:	n/a	chr12:123756519-123756533
30	CTCF	chr12:123755400-123755550	HUVEC	blood vessel:	n/a	n/a
31	RAD21	chr12:123755436-123756073	SK-N-SH	brain:	n/a	chr12:123755514-123755527 chr12:123755777-123755791
32	POLR2A	chr12:123754048-123755477	SK-N-MC	brain:	n/a	n/a
33	CTCF	chr12:123755380-123755530	GM12865	blood:	n/a	n/a
34	POLR2A	chr12:123754817-123756733	GM18951	blood:	n/a	n/a
35	POLR2A	chr12:123755266-123756833	ECC-1	luminal epithelium:	n/a	n/a
36	USF1	chr12:123755224-123755482	GM12878	blood:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268 chr12:123755350-123755361
37	MAX	chr12:123754550-123757110	A549	lung:	n/a	chr12:123756093-123756102 chr12:123755815-123755825 chr12:123755367-123755376
38	USF1	chr12:123755135-123755564	SK-N-SH	brain:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268 chr12:123755350-123755361
39	MTA3	chr12:123754371-123755603	GM12878	blood:	n/a	n/a
40	CTCF	chr12:123755390-123755508	GM10266	blood:	n/a	n/a
41	CTCF	chr12:123755457-123755955	IMR90	lung:	n/a	chr12:123755750-123755763
42	TAF7	chr12:123755210-123755566	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr12:123755360-123755510	AG04450	lung:	n/a	n/a
44	POLR2A	chr12:123753773-123757018	HUVEC	blood vessel:	n/a	n/a
45	USF1	chr12:123755140-123755471	SK-N-SH_RA	brain:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268 chr12:123755350-123755361
46	USF1	chr12:123755143-123755582	ECC-1	luminal epithelium:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268 chr12:123755350-123755361
47	POLR2A	chr12:123755381-123756993	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr12:123755357-123755522	Hela-S3	cervix:	n/a	n/a
49	USF1	chr12:123755197-123755515	A549	lung:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268 chr12:123755350-123755361
50	ELF1	chr12:123754916-123755505	GM12878	blood:	n/a	chr12:123755254-123755266 chr12:123755253-123755265

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	chr12:123753478..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	chr12:123753293..123755952-chr12:123766285..123768150,2	MCF-7	breast:
16	chr12:123463846..123466792-chr12:123754381..123757110,2	MCF-7	breast:
17	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:
18	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
19	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
20	chr12:123463187..123465154-chr12:123754619..123756805,2	K562	blood:
21	chr12:123754511..123756318-chr12:123868404..123870683,2	MCF-7	breast:
22	chr12:123755285..123757528-chr12:124068793..124071301,3	MCF-7	breast:
23	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
24	chr12:123754868..123756621-chr12:123942711..123944463,2	MCF-7	breast:
25	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
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:

Variant related genes	Relation type
CDK2AP1	TF binding region
ENSG00000150967	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000009307	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000199845	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000270113	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000111364	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	chr12:123752400-123755600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:123752400-123755600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr12:123753000-123755600	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr12:123753000-123756800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:123753400-123755600	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr12:123753600-123757200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr12:123753800-123755600	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr12:123753800-123755600	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr12:123753800-123757000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:123753800-123757000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:123754000-123755600	Active TSS	Fetal Kidney	kidney
15	chr12:123754000-123756600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:123754000-123756800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:123754000-123756800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr12:123754000-123756800	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr12:123754000-123756800	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr12:123754000-123756800	Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr12:123754000-123756800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:123754000-123756800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:123754000-123756800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:123754000-123756800	Active TSS	Brain Angular Gyrus	brain
25	chr12:123754000-123756800	Active TSS	Gastric	stomach
26	chr12:123754000-123757000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr12:123754000-123757000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:123754000-123757200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:123754000-123757200	Active TSS	Ovary	ovary
30	chr12:123754000-123757400	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr12:123754000-123757600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:123754200-123755600	Active TSS	Fetal Lung	lung
33	chr12:123754200-123755600	Active TSS	NHDF-Ad	bronchial
34	chr12:123754200-123756800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:123754200-123756800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:123754200-123756800	Active TSS	HSMMtube	muscle
37	chr12:123754200-123757000	Active TSS	H1 Cell Line	embryonic stem cell
38	chr12:123754200-123757200	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr12:123754200-123757200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:123754200-123757200	Active TSS	Aorta	Aorta
41	chr12:123754200-123757200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr12:123754200-123757200	Active TSS	HSMM	muscle
43	chr12:123754200-123757400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:123754200-123757400	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr12:123754600-123755600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:123754600-123755600	Flanking Active TSS	Liver	Liver
47	chr12:123754600-123756800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:123754600-123756800	Active TSS	Small Intestine	intestine
49	chr12:123754800-123755600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:123754800-123756600	Active TSS	HMEC	breast

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