Variant report

Variant	esv3390118
Chromosome Location	chr13:110377991-110378169
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	CEBPB	chr13:110378158-110378504	K562	blood:	n/a	n/a
2	CEBPB	chr13:110378164-110378455	HepG2	liver:	n/a	n/a
3	MAX	chr13:110377652-110378118	NB4	blood:	n/a	chr13:110377921-110377928 chr13:110377920-110377930 chr13:110377920-110377930
4	MYC	chr13:110377638-110378244	NB4	blood:	n/a	chr13:110377921-110377928 chr13:110377920-110377930 chr13:110377920-110377930
5	SPI1	chr13:110377528-110378068	HL-60	blood:	n/a	chr13:110377792-110377799 chr13:110377788-110377801

No.	Distal block	Cell Line	Cell type
1	chr13:110376117..110378721-chr13:110379998..110382162,2	K562	blood:
2	chr13:110374753..110377130-chr13:110377523..110379398,2	K562	blood:
3	chr13:110373412..110375608-chr13:110378035..110379687,2	K562	blood:

Variant related genes	Relation type
LINC00676	TF binding region
ENSG00000234854	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1330545	chr13:110378015-110378016	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144101736	chr13:110378041-110378042	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs74123718	chr13:110378043-110378044	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs547031378	chr13:110378084-110378085	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141825776	chr13:110378095-110378096	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs913952	chr13:110378119-110378120	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs75994065	chr13:110378141-110378142	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568345851	chr13:110378143-110378144	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547175615	chr13:110378147-110378148	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs537369292	chr13:110378151-110378152	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186262677	chr13:110378159-110378160	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110373000-110382000	Enhancers	Liver	Liver
2	chr13:110373200-110381200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:110373600-110381200	Weak transcription	Brain Angular Gyrus	brain
4	chr13:110373600-110381200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr13:110375000-110381600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr13:110376400-110381000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:110376400-110381000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr13:110376400-110381200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr13:110376800-110378200	Enhancers	Adipose Nuclei	Adipose
10	chr13:110376800-110378400	Enhancers	Brain Germinal Matrix	brain
11	chr13:110377200-110378200	Enhancers	Primary hematopoietic stem cells	blood
12	chr13:110377200-110378200	Enhancers	Brain Anterior Caudate	brain
13	chr13:110377200-110378400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:110377200-110378400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr13:110377200-110378600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr13:110377200-110378600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:110377400-110378200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr13:110377400-110382200	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr13:110377600-110378200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr13:110377600-110378200	Enhancers	Brain Hippocampus Middle	brain
21	chr13:110377600-110381200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr13:110377600-110381200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:110377800-110378000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr13:110377800-110378200	Enhancers	Brain Substantia Nigra	brain
25	chr13:110378000-110378200	Enhancers	Stomach Mucosa	stomach

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