Variant report

Variant	esv1717066
Chromosome Location	chr4:3465187-3465189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3343221..3349626-chr4:3462156..3471133,16	MCF-7	breast:
2	chr4:3464939..3465859-chr4:3486070..3487026,3	MCF-7	breast:
3	chr4:3464468..3466347-chr4:3532849..3534407,2	MCF-7	breast:
4	chr4:3110927..3117533-chr4:3461507..3465762,15	MCF-7	breast:
5	chr4:3292471..3295854-chr4:3462941..3467927,8	MCF-7	breast:
6	chr4:3464629..3465770-chr4:3486550..3487347,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197386	chromatin interactions
ENSG00000163956	chromatin interactions
ENSG00000159788	chromatin interactions
ENSG00000175920	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 58 )

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	rs71180187	chr4:3465188-3465189	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3462600-3465800	Enhancers	Liver	Liver
2	chr4:3463200-3465600	Bivalent Enhancer	Placenta	Placenta
3	chr4:3464200-3465400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:3464200-3465800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:3464400-3465400	Weak transcription	Lung	lung
6	chr4:3464600-3465200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:3464600-3465200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
8	chr4:3464600-3465400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:3464600-3465600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
10	chr4:3464600-3465600	Active TSS	Aorta	Aorta
11	chr4:3464600-3465800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr4:3464600-3466000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr4:3464600-3466400	Active TSS	HSMM	muscle
14	chr4:3464600-3466800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
15	chr4:3464600-3467400	Active TSS	Right Ventricle	heart
16	chr4:3464800-3465200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:3464800-3465200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:3464800-3465200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:3464800-3465200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:3464800-3465200	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr4:3464800-3465200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:3464800-3465200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:3464800-3465200	Bivalent/Poised TSS	Colonic Mucosa	Colon
24	chr4:3464800-3465200	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr4:3464800-3465200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
26	chr4:3464800-3465200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
27	chr4:3464800-3465400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr4:3464800-3465400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr4:3464800-3465400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:3464800-3465400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:3464800-3465400	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr4:3464800-3465400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:3464800-3465400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
34	chr4:3464800-3465400	Weak transcription	Fetal Heart	heart
35	chr4:3464800-3465400	Active TSS	Ovary	ovary
36	chr4:3464800-3465400	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr4:3464800-3465400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
38	chr4:3464800-3465600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr4:3464800-3465600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr4:3464800-3465600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:3464800-3465600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:3464800-3465600	Active TSS	Pancreas	Pancrea
43	chr4:3464800-3465800	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr4:3464800-3466000	Active TSS	Psoas Muscle	Psoas
45	chr4:3464800-3466400	Active TSS	Right Atrium	heart
46	chr4:3464800-3466400	Bivalent/Poised TSS	HepG2	liver
47	chr4:3464800-3468600	Active TSS	HSMMtube	muscle
48	chr4:3465000-3465200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr4:3465000-3465200	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr4:3465000-3465200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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