Variant report

Variant	esv3347072
Chromosome Location	chr4:74531710-74537136
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:59782008..59784762-chr4:74537040..74539497,2	MCF-7	breast:

Extended variants
information (count: 230 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546196811	chr4:74531731-74531732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564603847	chr4:74531734-74531735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531831085	chr4:74531756-74531757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550153253	chr4:74531779-74531780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372429122	chr4:74531801-74531802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62314280	chr4:74531806-74531807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs187431558	chr4:74531814-74531815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376479479	chr4:74531815-74531816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191357236	chr4:74531832-74531833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368452263	chr4:74531833-74531834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561520551	chr4:74531938-74531939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377708199	chr4:74531944-74531945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539084287	chr4:74531969-74531970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550955495	chr4:74531979-74531980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184658589	chr4:74531989-74531990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187877856	chr4:74531992-74531993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555131234	chr4:74532007-74532008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573796743	chr4:74532013-74532014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540680049	chr4:74532067-74532068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369733742	chr4:74532114-74532115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1247693	chr4:74532124-74532125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs374695804	chr4:74532130-74532131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553261479	chr4:74532164-74532165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577987323	chr4:74532206-74532207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201053199	chr4:74532211-74532212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546259930	chr4:74532212-74532213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558178775	chr4:74532221-74532222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs67902316	chr4:74532232-74532233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10023093	chr4:74532233-74532234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562004079	chr4:74532276-74532277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529510228	chr4:74532304-74532305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541242239	chr4:74532307-74532308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559663193	chr4:74532347-74532348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533445196	chr4:74532351-74532352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551614530	chr4:74532352-74532353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569321881	chr4:74532391-74532392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192090736	chr4:74532393-74532394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549084249	chr4:74532412-74532413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62314281	chr4:74532436-74532437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534853193	chr4:74532562-74532563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549769738	chr4:74532574-74532575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551060389	chr4:74532621-74532622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553195544	chr4:74532663-74532664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185336523	chr4:74532723-74532724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141633553	chr4:74532734-74532735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557250888	chr4:74532750-74532751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576518509	chr4:74532771-74532772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28821582	chr4:74532772-74532773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs190282533	chr4:74532779-74532780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181104142	chr4:74532780-74532781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Aortic dissecting aneurysms	22263138	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74524600-74534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:74528200-74534400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:74529000-74539200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:74529200-74534600	Weak transcription	A549	lung
5	chr4:74529200-74534800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:74530600-74534400	Weak transcription	Osteobl	bone
7	chr4:74530600-74535600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:74530600-74540200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:74531000-74534000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:74531000-74534400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:74531000-74534400	Weak transcription	NHDF-Ad	bronchial
12	chr4:74531200-74534400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:74533000-74533600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:74533200-74533400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr4:74533400-74534200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:74534000-74534600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:74534200-74534400	Enhancers	Stomach Smooth Muscle	stomach
18	chr4:74534200-74534400	Enhancers	HSMM	muscle
19	chr4:74534200-74534800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr4:74534200-74536600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:74534400-74534600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:74534400-74534600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:74534400-74534600	Enhancers	Duodenum Mucosa	Duodenum
24	chr4:74534400-74534600	Active TSS	HSMMtube	muscle
25	chr4:74534400-74534600	Flanking Active TSS	NHDF-Ad	bronchial
26	chr4:74534400-74534800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:74534400-74535000	Flanking Active TSS	HSMM	muscle
28	chr4:74534400-74535200	Enhancers	Osteobl	bone
29	chr4:74534400-74535600	Active TSS	Stomach Smooth Muscle	stomach
30	chr4:74534400-74535800	Enhancers	Fetal Brain Female	brain
31	chr4:74534400-74536200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:74534400-74536200	Enhancers	Fetal Muscle Leg	muscle
33	chr4:74534400-74536600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:74534600-74534800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr4:74534600-74534800	Enhancers	A549	lung
36	chr4:74534600-74534800	Active TSS	NHDF-Ad	bronchial
37	chr4:74534600-74535000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:74534600-74535000	Flanking Active TSS	HSMMtube	muscle
39	chr4:74534600-74535000	Flanking Active TSS	NH-A	brain
40	chr4:74534600-74535200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr4:74534600-74535200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:74534600-74535200	Active TSS	Aorta	Aorta
43	chr4:74534600-74535400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:74534600-74535400	Active TSS	Brain Anterior Caudate	brain
45	chr4:74534600-74535400	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr4:74534600-74535400	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr4:74534600-74535800	Active TSS	Ovary	ovary
48	chr4:74534600-74536000	Enhancers	Fetal Brain Male	brain
49	chr4:74534600-74536000	Enhancers	Rectal Smooth Muscle	rectum
50	chr4:74534800-74535000	Enhancers	Brain Cingulate Gyrus	brain

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