Variant report

Variant	rs34172986
Chromosome Location	chr12:123754683-123754684
allele	-/T
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	MYBL2	chr12:123754619-123755071	HepG2	liver:	n/a	n/a
5	FOXA1	chr12:123754563-123755107	HepG2	liver:	n/a	n/a
6	MTA3	chr12:123754422-123755012	GM12878	blood:	n/a	n/a
7	MAZ	chr12:123753845-123754717	GM12878	blood:	n/a	chr12:123754155-123754164 chr12:123754240-123754250
8	FOXA1	chr12:123754458-123755130	HepG2	liver:	n/a	n/a
9	SIN3AK20	chr12:123754673-123754992	HepG2	liver:	n/a	n/a
10	RFX5	chr12:123754587-123755007	GM12878	blood:	n/a	chr12:123754722-123754731
11	POLR2A	chr12:123754518-123754752	HepG2	liver:	n/a	n/a
12	TBP	chr12:123754513-123755121	HepG2	liver:	n/a	n/a
13	FOXA1	chr12:123754511-123755011	HepG2	liver:	n/a	n/a
14	SP1	chr12:123754595-123755064	HepG2	liver:	n/a	n/a
15	CHD1	chr12:123754296-123755530	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZBTB7A	chr12:123754498-123754916	HepG2	liver:	n/a	n/a
17	ZBTB7A	chr12:123754481-123754910	HepG2	liver:	n/a	n/a
18	POLR2A	chr12:123753882-123754693	HUVEC	blood vessel:	n/a	n/a
19	CHD1	chr12:123753598-123756147	IMR90	lung:	n/a	chr12:123754235-123754245
20	RUNX3	chr12:123754645-123755048	GM12878	blood:	n/a	n/a
21	MXI1	chr12:123751836-123757238	SK-N-SH	brain:	n/a	chr12:123755352-123755361
22	FOXA2	chr12:123754564-123755042	HepG2	liver:	n/a	n/a
23	POLR2A	chr12:123754048-123755477	SK-N-MC	brain:	n/a	n/a
24	MXI1	chr12:123754640-123755363	HepG2	liver:	n/a	chr12:123755352-123755361
25	MYBL2	chr12:123754506-123755138	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:123753844-123755161	H1-neurons	neurons:	n/a	n/a
27	MAX	chr12:123754550-123757110	A549	lung:	n/a	chr12:123756093-123756102 chr12:123755815-123755825 chr12:123755367-123755376
28	MTA3	chr12:123754371-123755603	GM12878	blood:	n/a	n/a
29	MAZ	chr12:123754025-123755284	HepG2	liver:	n/a	chr12:123754155-123754164 chr12:123754240-123754250
30	RFX5	chr12:123754636-123755020	Hela-S3	cervix:	n/a	chr12:123754722-123754731
31	POLR2A	chr12:123753773-123757018	HUVEC	blood vessel:	n/a	n/a
32	ARID3A	chr12:123754668-123754811	HepG2	liver:	n/a	n/a
33	FOXA1	chr12:123754627-123755085	HepG2	liver:	n/a	n/a
34	HEY1	chr12:123754542-123754818	HepG2	liver:	n/a	n/a
35	NFIC	chr12:123754623-123755097	HepG2	liver:	n/a	n/a
36	TAF1	chr12:123754634-123754961	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr12:123754629-123755299	HepG2	liver:	n/a	n/a
38	POLR2A	chr12:123753851-123755460	HepG2	liver:	n/a	n/a
39	NFATC1	chr12:123754619-123754914	GM12878	blood:	n/a	n/a
40	EP300	chr12:123754527-123755001	HepG2	liver:	n/a	chr12:123754799-123754809
41	MAFF	chr12:123754662-123754843	HepG2	liver:	n/a	n/a
42	MAZ	chr12:123753736-123757280	IMR90	lung:	n/a	chr12:123756093-123756102 chr12:123754155-123754164 chr12:123755815-123755825 chr12:123755367-123755376 chr12:123754240-123754250
43	HDAC2	chr12:123754414-123755111	HepG2	liver:	n/a	chr12:123754503-123754517 chr12:123754799-123754808
44	SMARCB1	chr12:123754564-123756401	Hela-S3	cervix:	n/a	n/a
45	PML	chr12:123753608-123755391	GM12878	blood:	n/a	n/a
46	RFX5	chr12:123754575-123754921	H1-hESC	embryonic stem cell:	n/a	chr12:123754722-123754731
47	POLR2A	chr12:123754568-123754811	GM12878	blood:	n/a	n/a
48	TEAD4	chr12:123754517-123755016	HepG2	liver:	n/a	n/a
49	RFX5	chr12:123753988-123755176	HepG2	liver:	n/a	chr12:123754722-123754731
50	STAT5A	chr12:123754502-123755458	GM12878	blood:	n/a	chr12:123755051-123755063 chr12:123754676-123754688 chr12:123754646-123754658

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	chr12:123463187..123465154-chr12:123754619..123756805,2	K562	blood:
16	chr12:123754511..123756318-chr12:123868404..123870683,2	MCF-7	breast:
17	chr12:123753772..123755288-chr12:124118042..124119686,2	MCF-7	breast:
18	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
19	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
20	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:

Variant related genes	Relation type
CDK2AP1	TF binding region
ENSG00000247373	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000199845	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000139697	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	chr12:123752000-123755600	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	chr12:123753200-123755000	Flanking Active TSS	NH-A	brain
13	chr12:123753200-123755400	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr12:123753400-123755400	Flanking Active TSS	Colonic Mucosa	Colon
15	chr12:123753400-123755600	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr12:123753600-123754800	Flanking Active TSS	HMEC	breast
17	chr12:123753600-123755000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:123753600-123755200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:123753600-123755400	Flanking Active TSS	Fetal Muscle Trunk	muscle
20	chr12:123753600-123755400	Flanking Active TSS	Fetal Thymus	thymus
21	chr12:123753600-123757200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr12:123753800-123755200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:123753800-123755400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr12:123753800-123755400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr12:123753800-123755600	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr12:123753800-123755600	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr12:123753800-123757000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:123753800-123757000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:123754000-123754800	Active TSS	Brain Cingulate Gyrus	brain
30	chr12:123754000-123754800	Active TSS	Brain Substantia Nigra	brain
31	chr12:123754000-123755000	Active TSS	HepG2	liver
32	chr12:123754000-123755400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr12:123754000-123755400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr12:123754000-123755400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr12:123754000-123755400	Flanking Active TSS	Placenta	Placenta
36	chr12:123754000-123755600	Active TSS	Fetal Kidney	kidney
37	chr12:123754000-123756600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:123754000-123756800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:123754000-123756800	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr12:123754000-123756800	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr12:123754000-123756800	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr12:123754000-123756800	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr12:123754000-123756800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:123754000-123756800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:123754000-123756800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:123754000-123756800	Active TSS	Brain Angular Gyrus	brain
47	chr12:123754000-123756800	Active TSS	Gastric	stomach
48	chr12:123754000-123757000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr12:123754000-123757000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:123754000-123757200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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