Variant report

Variant	esv2345759
Chromosome Location	chr12:104351672-104351673
allele	n/a
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	CHD1	chr12:104349306-104351717	IMR90	lung:	n/a	n/a
2	CREB1	chr12:104350560-104351675	GM12878	blood:	n/a	n/a
3	CREB1	chr12:104350629-104351679	GM12878	blood:	n/a	n/a
4	GABPA	chr12:104350432-104351702	MCF-7	breast:	n/a	chr12:104350830-104350839 chr12:104350803-104350810
5	GABPA	chr12:104350238-104351691	MCF-7	breast:	n/a	chr12:104350830-104350839 chr12:104350803-104350810
6	HCFC1	chr12:104349674-104351715	Hela-S3	cervix:	n/a	n/a
7	JUN	chr12:104349437-104351681	K562	blood:	n/a	chr12:104351146-104351157
8	MAX	chr12:104350083-104351706	A549	lung:	n/a	chr12:104351043-104351052
9	MAX	chr12:104349963-104351688	HCT-116	colon:	n/a	chr12:104351043-104351052
10	MAX	chr12:104349820-104351720	A549	lung:	n/a	chr12:104351043-104351052
11	MAZ	chr12:104349257-104351725	IMR90	lung:	n/a	chr12:104351043-104351052
12	MTA3	chr12:104349808-104351714	GM12878	blood:	n/a	n/a
13	MXI1	chr12:104349666-104351674	SK-N-SH	brain:	n/a	n/a
14	MYC	chr12:104350133-104351702	MCF10A-Er-Src	breast:	n/a	chr12:104351043-104351052
15	NFIC	chr12:104350442-104351732	SK-N-SH	brain:	n/a	n/a
16	NFIC	chr12:104350342-104351683	ECC-1	luminal epithelium:	n/a	n/a
17	NR2F2	chr12:104350647-104351692	MCF-7	breast:	n/a	n/a
18	NR2F2	chr12:104350756-104351686	K562	blood:	n/a	n/a
19	NR2F2	chr12:104350280-104351714	K562	blood:	n/a	n/a
20	POLR2A	chr12:104349903-104351701	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr12:104350169-104351732	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr12:104350322-104351674	HepG2	liver:	n/a	n/a
23	POLR2A	chr12:104349916-104351692	SK-N-MC	brain:	n/a	n/a
24	REST	chr12:104349794-104351756	H1-neurons	neurons:	n/a	n/a
25	SIN3AK20	chr12:104349848-104351680	MCF-7	breast:	n/a	n/a
26	SIX5	chr12:104350356-104351722	A549	lung:	n/a	chr12:104351378-104351394 chr12:104351378-104351394 chr12:104351378-104351394
27	TAF1	chr12:104351456-104351674	H1-hESC	embryonic stem cell:	n/a	n/a
28	TCF12	chr12:104350300-104351691	A549	lung:	n/a	n/a
29	YY1	chr12:104350486-104351689	H1-hESC	embryonic stem cell:	n/a	chr12:104351031-104351045 chr12:104350626-104350637 chr12:104350625-104350634

No.	Distal block	Cell Line	Cell type
1	chr12:104234073..104236683-chr12:104349820..104352847,3	K562	blood:
2	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:
3	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:
4	chr12:104233713..104237034-chr12:104348727..104352026,4	MCF-7	breast:
5	chr12:104309475..104312400-chr12:104350529..104352590,2	MCF-7	breast:
6	chr12:104349867..104352216-chr12:105350654..105352678,2	MCF-7	breast:

Variant related genes	Relation type
C12orf73	TF binding region
ENSG00000166598	chromatin interactions
ENSG00000257327	chromatin interactions
ENSG00000214198	chromatin interactions
ENSG00000136052	chromatin interactions
ENSG00000111696	chromatin interactions
ENSG00000265072	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34281070	chr12:104351672-104351673	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104349200-104351800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:104349400-104352000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:104349600-104351800	Active TSS	A549	lung
4	chr12:104349600-104352200	Active TSS	K562	blood
5	chr12:104350400-104352000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:104350400-104352200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr12:104351200-104351800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:104351400-104352000	Active TSS	HepG2	liver
9	chr12:104351400-104358000	Weak transcription	Lung	lung
10	chr12:104351400-104358000	Weak transcription	Spleen	Spleen
11	chr12:104351600-104351800	Enhancers	Dnd41	blood
12	chr12:104351600-104351800	Weak transcription	Hela-S3	cervix
13	chr12:104351600-104352000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:104351600-104352000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:104351600-104352000	Enhancers	Primary B cells from cord blood	blood
16	chr12:104351600-104352000	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:104351600-104352000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr12:104351600-104352000	Enhancers	Primary hematopoietic stem cells	blood
19	chr12:104351600-104352000	Enhancers	Adipose Nuclei	Adipose
20	chr12:104351600-104352000	Enhancers	Fetal Muscle Leg	muscle
21	chr12:104351600-104352000	Enhancers	Left Ventricle	heart
22	chr12:104351600-104352200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:104351600-104352200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:104351600-104352200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:104351600-104352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:104351600-104352200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:104351600-104352200	Weak transcription	HSMM	muscle
28	chr12:104351600-104352400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:104351600-104352400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr12:104351600-104352400	Weak transcription	Liver	Liver
31	chr12:104351600-104352600	Enhancers	HUVEC	blood vessel
32	chr12:104351600-104352800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr12:104351600-104353000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:104351600-104353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:104351600-104354000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:104351600-104354400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:104351600-104355600	Weak transcription	Brain Germinal Matrix	brain
38	chr12:104351600-104356200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:104351600-104356400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:104351600-104356400	Weak transcription	Brain Angular Gyrus	brain
41	chr12:104351600-104357000	Weak transcription	Fetal Brain Female	brain
42	chr12:104351600-104357200	Weak transcription	GM12878-XiMat	blood
43	chr12:104351600-104357400	Weak transcription	Fetal Lung	lung
44	chr12:104351600-104357400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:104351600-104357600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:104351600-104357600	Weak transcription	NHLF	lung
47	chr12:104351600-104357800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr12:104351600-104357800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:104351600-104357800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:104351600-104357800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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