Variant report

Variant	esv3444229
Chromosome Location	chr4:187407480-187407723
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545541195	chr4:187407496-187407497	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs73022729	chr4:187407512-187407513	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531380965	chr4:187407523-187407524	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs542023381	chr4:187407565-187407566	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs59268580	chr4:187407581-187407582	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527563109	chr4:187407592-187407593	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs150785689	chr4:187407595-187407596	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs566861069	chr4:187407627-187407628	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs59019268	chr4:187407632-187407633	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs149448394	chr4:187407637-187407638	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs143970285	chr4:187407638-187407639	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs538018021	chr4:187407666-187407667	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs554093733	chr4:187407672-187407673	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs548745897	chr4:187407673-187407674	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs140376876	chr4:187407691-187407692	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs572369760	chr4:187407717-187407718	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs145604760	chr4:187407720-187407721	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187395400-187413600	Weak transcription	K562	blood
2	chr4:187403400-187407800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:187406200-187407600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:187406200-187407800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:187406200-187407800	Enhancers	Fetal Brain Male	brain
6	chr4:187406200-187408000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:187406200-187408000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:187406200-187408000	Active TSS	Brain Cingulate Gyrus	brain
9	chr4:187406200-187408000	Active TSS	Brain Substantia Nigra	brain
10	chr4:187406200-187409400	Active TSS	Brain Anterior Caudate	brain
11	chr4:187406400-187407800	Active TSS	Brain Germinal Matrix	brain
12	chr4:187406400-187407800	Active TSS	NHDF-Ad	bronchial
13	chr4:187406600-187407600	Active TSS	Colonic Mucosa	Colon
14	chr4:187406600-187407600	Active TSS	Right Atrium	heart
15	chr4:187406600-187407800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr4:187406600-187407800	Active TSS	Aorta	Aorta
17	chr4:187406600-187407800	Active TSS	Brain Angular Gyrus	brain
18	chr4:187406600-187407800	Active TSS	Colon Smooth Muscle	Colon
19	chr4:187406600-187407800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr4:187406600-187407800	Active TSS	Rectal Smooth Muscle	rectum
21	chr4:187406600-187407800	Active TSS	HSMM	muscle
22	chr4:187406600-187408000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:187406800-187407600	Flanking Active TSS	Fetal Lung	lung
24	chr4:187406800-187407800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr4:187406800-187407800	Flanking Active TSS	NH-A	brain
26	chr4:187406800-187407800	Active TSS	Osteobl	bone
27	chr4:187406800-187408000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:187406800-187408000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:187406800-187408000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:187406800-187408000	Enhancers	Pancreas	Pancrea
31	chr4:187407000-187407600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:187407000-187407600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:187407000-187407600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:187407000-187407600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr4:187407000-187408000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:187407000-187409200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:187407200-187407600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:187407200-187407600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
39	chr4:187407200-187407600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
40	chr4:187407200-187407600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr4:187407200-187407600	Active TSS	Muscle Satellite Cultured Cells	--
42	chr4:187407200-187407600	Flanking Active TSS	Fetal Brain Female	brain
43	chr4:187407200-187407600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
44	chr4:187407200-187407600	Enhancers	Psoas Muscle	Psoas
45	chr4:187407200-187407600	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr4:187407200-187408000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:187407200-187408000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr4:187407200-187408000	Active TSS	Brain Hippocampus Middle	brain
49	chr4:187407200-187408200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:187407400-187407600	Active TSS	HUES64 Cell Line	embryonic stem cell

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