Variant report

Variant	esv1442499
Chromosome Location	chr5:178976591-178976592
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:178976215-178978518	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr5:178974241-178979045	K562	blood:	n/a	n/a
3	POLR2A	chr5:178976178-178978474	K562	blood:	n/a	n/a
4	POLR2A	chr5:178976068-178978510	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:178976586-178976750	MCF-7	breast:	n/a	n/a
6	POLR2A	chr5:178976540-178976751	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:178976257-178978451	K562	blood:	n/a	n/a
8	POLR2A	chr5:178976229-178978520	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr5:178976467-178978499	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:178976175-178978544	GM12891	blood:	n/a	n/a
11	POLR2A	chr5:178976539-178978553	Raji	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178953283..178956112-chr5:178976067..178979094,3	MCF-7	breast:
2	chr5:178976464..178979366-chr5:179003151..179005535,3	MCF-7	breast:
3	chr5:178975440..178984076-chr5:179047224..179053131,17	K562	blood:
4	chr5:178976329..178981059-chr5:179123787..179127407,6	K562	blood:
5	chr5:178975751..178978306-chr5:178993914..178996502,2	MCF-7	breast:
6	chr5:178961944..178964885-chr5:178975318..178977306,2	MCF-7	breast:
7	chr5:178975801..178977799-chr5:178987617..178990258,3	K562	blood:
8	chr5:178975871..178983601-chr5:179047224..179052413,15	K562	blood:
9	chr5:178976591..178978128-chr5:179049452..179051597,2	MCF-7	breast:
10	chr5:178976539..178978410-chr5:179046983..179049342,2	MCF-7	breast:
11	chr5:178947804..178950473-chr5:178974779..178977233,2	MCF-7	breast:
12	chr5:178976299..178979036-chr5:178987617..178989903,2	K562	blood:
13	chr5:178971437..178973246-chr5:178974311..178976700,2	K562	blood:
14	chr5:178975834..178978833-chr5:179245271..179247079,2	K562	blood:
15	chr5:178976288..178979908-chr5:179158372..179161228,3	MCF-7	breast:
16	chr5:178975690..178977861-chr5:179029775..179032308,2	K562	blood:

No data

Variant related genes	Relation type
RUFY1	TF binding region
ENSG00000253520	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000244945	chromatin interactions
ENSG00000251545	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000176783	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000161021	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 101 )

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	rs398084689	chr5:178976591-178976592	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	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
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178958000-178976800	Weak transcription	Fetal Intestine Small	intestine
2	chr5:178958000-178977000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:178972000-178976600	Weak transcription	Fetal Thymus	thymus
4	chr5:178972000-178976600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:178972000-178976800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:178972200-178976800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:178972400-178976600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:178972400-178976600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:178972600-178976600	Weak transcription	GM12878-XiMat	blood
10	chr5:178973800-178976600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:178975000-178976800	Enhancers	Adipose Nuclei	Adipose
12	chr5:178975200-178976600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:178975600-178976600	Enhancers	Lung	lung
14	chr5:178975600-178977000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:178976200-178976600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:178976200-178976600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:178976200-178976600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:178976200-178976600	Enhancers	Dnd41	blood
19	chr5:178976200-178976800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:178976200-178976800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:178976200-178976800	Enhancers	Primary B cells from cord blood	blood
22	chr5:178976200-178976800	Enhancers	Fetal Muscle Leg	muscle
23	chr5:178976200-178976800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:178976200-178976800	Enhancers	Thymus	Thymus
25	chr5:178976200-178977000	Enhancers	Liver	Liver
26	chr5:178976200-178977000	Enhancers	NHDF-Ad	bronchial
27	chr5:178976200-178977200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr5:178976200-178977200	Flanking Active TSS	Hela-S3	cervix
29	chr5:178976400-178976600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:178976400-178976600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:178976400-178976600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:178976400-178976600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr5:178976400-178976600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:178976400-178976600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:178976400-178976600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:178976400-178976600	Enhancers	Fetal Kidney	kidney
37	chr5:178976400-178976600	Enhancers	NHLF	lung
38	chr5:178976400-178976600	Enhancers	Osteobl	bone
39	chr5:178976400-178976800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr5:178976400-178976800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:178976400-178976800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr5:178976400-178976800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr5:178976400-178976800	Enhancers	Fetal Lung	lung
44	chr5:178976400-178976800	Enhancers	Fetal Muscle Trunk	muscle
45	chr5:178976400-178976800	Enhancers	HepG2	liver
46	chr5:178976400-178976800	Enhancers	K562	blood
47	chr5:178976400-178977200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr5:178976400-178977200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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