Variant report

Variant	rs543039275
Chromosome Location	chr12:123754531-123754532
allele	C/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	MXI1	chr12:123753684-123757129	IMR90	lung:	n/a	chr12:123755352-123755361
2	YY1	chr12:123754099-123754890	HepG2	liver:	n/a	chr12:123754148-123754159 chr12:123754365-123754376 chr12:123754231-123754242 chr12:123754375-123754387
3	POLR2A	chr12:123754236-123755597	H1-hESC	embryonic stem cell:	n/a	n/a
4	MTA3	chr12:123754422-123755012	GM12878	blood:	n/a	n/a
5	MAZ	chr12:123753845-123754717	GM12878	blood:	n/a	chr12:123754155-123754164 chr12:123754240-123754250
6	FOXA1	chr12:123754458-123755130	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:123754518-123754752	HepG2	liver:	n/a	n/a
8	YY1	chr12:123753901-123754622	SK-N-SH	brain:	n/a	chr12:123753946-123753957 chr12:123753975-123753983 chr12:123754148-123754159 chr12:123754365-123754376 chr12:123754231-123754242 chr12:123753948-123753957 chr12:123754375-123754387 chr12:123753945-123753954
9	TBP	chr12:123754513-123755121	HepG2	liver:	n/a	n/a
10	FOXA1	chr12:123754511-123755011	HepG2	liver:	n/a	n/a
11	CHD1	chr12:123754296-123755530	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZBTB7A	chr12:123754498-123754916	HepG2	liver:	n/a	n/a
13	ZBTB7A	chr12:123754481-123754910	HepG2	liver:	n/a	n/a
14	POLR2A	chr12:123753882-123754693	HUVEC	blood vessel:	n/a	n/a
15	ZBTB7A	chr12:123754056-123754610	K562	blood:	n/a	n/a
16	CHD1	chr12:123753598-123756147	IMR90	lung:	n/a	chr12:123754235-123754245
17	MXI1	chr12:123751836-123757238	SK-N-SH	brain:	n/a	chr12:123755352-123755361
18	POLR2A	chr12:123754048-123755477	SK-N-MC	brain:	n/a	n/a
19	YY1	chr12:123753850-123754585	SK-N-SH_RA	brain:	n/a	chr12:123753946-123753957 chr12:123753975-123753983 chr12:123754148-123754159 chr12:123754365-123754376 chr12:123754231-123754242 chr12:123753948-123753957 chr12:123754375-123754387 chr12:123753945-123753954
20	TAF1	chr12:123753851-123754545	H1-hESC	embryonic stem cell:	n/a	n/a
21	MYBL2	chr12:123754506-123755138	HepG2	liver:	n/a	n/a
22	YY1	chr12:123753793-123754616	GM12878	blood:	n/a	chr12:123753946-123753957 chr12:123753975-123753983 chr12:123754148-123754159 chr12:123754365-123754376 chr12:123754231-123754242 chr12:123753948-123753957 chr12:123754375-123754387 chr12:123753945-123753954
23	POLR2A	chr12:123753844-123755161	H1-neurons	neurons:	n/a	n/a
24	YY1	chr12:123754203-123754596	H1-hESC	embryonic stem cell:	n/a	chr12:123754365-123754376 chr12:123754231-123754242 chr12:123754375-123754387
25	MTA3	chr12:123754371-123755603	GM12878	blood:	n/a	n/a
26	YY1	chr12:123754217-123754562	GM12891	blood:	n/a	chr12:123754365-123754376 chr12:123754231-123754242 chr12:123754375-123754387
27	MAZ	chr12:123754025-123755284	HepG2	liver:	n/a	chr12:123754155-123754164 chr12:123754240-123754250
28	POLR2A	chr12:123753773-123757018	HUVEC	blood vessel:	n/a	n/a
29	YY1	chr12:123753833-123754565	GM12878	blood:	n/a	chr12:123753946-123753957 chr12:123753975-123753983 chr12:123754148-123754159 chr12:123754365-123754376 chr12:123754231-123754242 chr12:123753948-123753957 chr12:123754375-123754387 chr12:123753945-123753954
30	POLR2A	chr12:123753798-123754554	GM12878	blood:	n/a	n/a
31	CHD1	chr12:123754435-123754580	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:123753851-123755460	HepG2	liver:	n/a	n/a
33	EP300	chr12:123754527-123755001	HepG2	liver:	n/a	chr12:123754799-123754809
34	YY1	chr12:123754209-123754540	HepG2	liver:	n/a	chr12:123754365-123754376 chr12:123754231-123754242 chr12:123754375-123754387
35	MAZ	chr12:123753736-123757280	IMR90	lung:	n/a	chr12:123756093-123756102 chr12:123754155-123754164 chr12:123755815-123755825 chr12:123755367-123755376 chr12:123754240-123754250
36	POLR2A	chr12:123753761-123754544	SK-N-SH	brain:	n/a	n/a
37	HDAC2	chr12:123754414-123755111	HepG2	liver:	n/a	chr12:123754503-123754517 chr12:123754799-123754808
38	PML	chr12:123753608-123755391	GM12878	blood:	n/a	n/a
39	ELF1	chr12:123753666-123754669	GM12878	blood:	n/a	chr12:123754359-123754371 chr12:123754364-123754373
40	TAF1	chr12:123753732-123754621	H1-hESC	embryonic stem cell:	n/a	n/a
41	TAF1	chr12:123754220-123754591	GM12878	blood:	n/a	n/a
42	TAF1	chr12:123753881-123754578	H1-neurons	neurons:	n/a	n/a
43	TEAD4	chr12:123754517-123755016	HepG2	liver:	n/a	n/a
44	CTCF	chr12:123754500-123754650	HBMEC	blood vessel:	n/a	n/a
45	RFX5	chr12:123753988-123755176	HepG2	liver:	n/a	chr12:123754722-123754731
46	STAT5A	chr12:123754502-123755458	GM12878	blood:	n/a	chr12:123755051-123755063 chr12:123754676-123754688 chr12:123754646-123754658
47	RCOR1	chr12:123754243-123756033	IMR90	lung:	n/a	n/a
48	YY1	chr12:123753961-123754706	H1-hESC	embryonic stem cell:	n/a	chr12:123753975-123753983 chr12:123754148-123754159 chr12:123754365-123754376 chr12:123754231-123754242 chr12:123754375-123754387
49	POLR2A	chr12:123752762-123757235	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr12:123754470-123755226	H1-hESC	embryonic stem cell:	n/a	n/a

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	chr12:123737328..123740075-chr12:123754040..123756567,3	MCF-7	breast:
6	chr12:123753572..123756952-chr12:123872035..123874712,3	MCF-7	breast:
7	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:
8	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
9	chr12:123449665..123451282-chr12:123753748..123757462,3	MCF-7	breast:
10	chr12:123753293..123755952-chr12:123766285..123768150,2	MCF-7	breast:
11	chr12:123463846..123466792-chr12:123754381..123757110,2	MCF-7	breast:
12	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:
13	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
14	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
15	chr12:123754511..123756318-chr12:123868404..123870683,2	MCF-7	breast:
16	chr12:123753772..123755288-chr12:124118042..124119686,2	MCF-7	breast:
17	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
18	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
19	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:

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

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123742400-123754600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:123742400-123754600	Weak transcription	Small Intestine	intestine
3	chr12:123749400-123754600	Enhancers	Fetal Brain Male	brain
4	chr12:123752000-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:123752200-123755200	Flanking Active TSS	Fetal Muscle Leg	muscle
6	chr12:123752200-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:123752200-123755600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr12:123752400-123755400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr12:123752400-123755600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr12:123752400-123755600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr12:123752600-123754600	Active TSS	Rectal Smooth Muscle	rectum
12	chr12:123752600-123755400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr12:123752600-123755400	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr12:123753000-123755600	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr12:123753000-123756800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:123753200-123754600	Enhancers	Liver	Liver
17	chr12:123753200-123755000	Flanking Active TSS	NH-A	brain
18	chr12:123753200-123755400	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr12:123753400-123755400	Flanking Active TSS	Colonic Mucosa	Colon
20	chr12:123753400-123755600	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr12:123753600-123754600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr12:123753600-123754800	Flanking Active TSS	HMEC	breast
23	chr12:123753600-123755000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:123753600-123755200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:123753600-123755400	Flanking Active TSS	Fetal Muscle Trunk	muscle
26	chr12:123753600-123755400	Flanking Active TSS	Fetal Thymus	thymus
27	chr12:123753600-123757200	Active TSS	H9 Cell Line	embryonic stem cell
28	chr12:123753800-123754600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:123753800-123754600	Enhancers	K562	blood
30	chr12:123753800-123755200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:123753800-123755400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr12:123753800-123755400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr12:123753800-123755600	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr12:123753800-123755600	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr12:123753800-123757000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:123753800-123757000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:123754000-123754600	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr12:123754000-123754600	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr12:123754000-123754600	Active TSS	Fetal Brain Female	brain
40	chr12:123754000-123754600	Active TSS	Left Ventricle	heart
41	chr12:123754000-123754600	Active TSS	Psoas Muscle	Psoas
42	chr12:123754000-123754600	Active TSS	Right Atrium	heart
43	chr12:123754000-123754600	Active TSS	Thymus	Thymus
44	chr12:123754000-123754800	Active TSS	Brain Cingulate Gyrus	brain
45	chr12:123754000-123754800	Active TSS	Brain Substantia Nigra	brain
46	chr12:123754000-123755000	Active TSS	HepG2	liver
47	chr12:123754000-123755400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr12:123754000-123755400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr12:123754000-123755400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr12:123754000-123755400	Flanking Active TSS	Placenta	Placenta

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