Variant report

Variant	esv3398182
Chromosome Location	chr4:148895102-148898800
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	chr4:148881694..148883564-chr4:148895633..148897317,2	MCF-7	breast:

Extended variants
information (count: 122 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537856763	chr4:148895196-148895197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557682052	chr4:148895276-148895277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115140690	chr4:148895284-148895285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540363882	chr4:148895332-148895333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560612626	chr4:148895451-148895452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574175178	chr4:148895515-148895516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543174596	chr4:148895531-148895532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563052319	chr4:148895537-148895538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531997818	chr4:148895542-148895543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149811732	chr4:148895581-148895582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113421946	chr4:148895583-148895584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145738189	chr4:148895619-148895620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78087548	chr4:148895708-148895709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148931719	chr4:148895733-148895734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28529145	chr4:148895784-148895785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs78661620	chr4:148895814-148895815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79590127	chr4:148895825-148895826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142761775	chr4:148895856-148895857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558415449	chr4:148895938-148895939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577644997	chr4:148895946-148895947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533904248	chr4:148895959-148895960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113046490	chr4:148895963-148895964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141144749	chr4:148895972-148895973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542857396	chr4:148895973-148895974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144866398	chr4:148895976-148895977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182835728	chr4:148896024-148896025	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373388769	chr4:148896044-148896045	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545748571	chr4:148896049-148896050	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565554139	chr4:148896102-148896103	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527303692	chr4:148896134-148896135	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72724389	chr4:148896217-148896218	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571712723	chr4:148896267-148896268	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560829519	chr4:148896351-148896352	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201124599	chr4:148896352-148896353	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529746485	chr4:148896372-148896373	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549606629	chr4:148896374-148896375	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376152015	chr4:148896432-148896433	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs187437398	chr4:148896492-148896493	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs192724041	chr4:148896523-148896524	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs184601096	chr4:148896537-148896538	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs565604956	chr4:148896575-148896576	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs11732086	chr4:148896615-148896616	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs187082902	chr4:148896641-148896642	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs370270712	chr4:148896646-148896647	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs191987475	chr4:148896666-148896667	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs556364530	chr4:148896668-148896669	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs576735737	chr4:148896698-148896699	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs140291289	chr4:148896733-148896734	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs559306336	chr4:148896742-148896743	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs572736481	chr4:148896820-148896821	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Intellectual disability	22102821	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
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148859400-148898000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:148864400-148896800	Weak transcription	Osteobl	bone
3	chr4:148866400-148927400	Weak transcription	Thymus	Thymus
4	chr4:148868200-148902600	Weak transcription	NH-A	brain
5	chr4:148878400-148896400	Weak transcription	HMEC	breast
6	chr4:148878600-148896400	Weak transcription	NHEK	skin
7	chr4:148880200-148896600	Weak transcription	Fetal Heart	heart
8	chr4:148883400-148896400	Weak transcription	Gastric	stomach
9	chr4:148885600-148905200	Weak transcription	Fetal Intestine Small	intestine
10	chr4:148885600-148905400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:148885600-148939000	Weak transcription	Pancreas	Pancrea
12	chr4:148885800-148896400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:148885800-148896400	Weak transcription	Lung	lung
14	chr4:148885800-148907000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr4:148885800-148912800	Weak transcription	Fetal Lung	lung
16	chr4:148886000-148917600	Weak transcription	Esophagus	oesophagus
17	chr4:148886800-148901800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:148888200-148896600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:148888600-148896200	Weak transcription	HSMMtube	muscle
20	chr4:148888800-148896200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:148888800-148896400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:148888800-148896400	Weak transcription	Fetal Muscle Leg	muscle
23	chr4:148889000-148896400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:148889000-148896600	Weak transcription	Aorta	Aorta
25	chr4:148889000-148905400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:148889200-148899400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:148889200-148936200	Weak transcription	Fetal Intestine Large	intestine
28	chr4:148889400-148896200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:148889400-148905400	Weak transcription	NHLF	lung
30	chr4:148889600-148897000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:148889800-148896400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:148890400-148896200	Weak transcription	HSMM	muscle
33	chr4:148890400-148897800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:148891200-148896400	Weak transcription	Adipose Nuclei	Adipose
35	chr4:148891400-148896400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:148891400-148896400	Weak transcription	Fetal Stomach	stomach
37	chr4:148891400-148896400	Weak transcription	Right Ventricle	heart
38	chr4:148891400-148905000	Weak transcription	Stomach Mucosa	stomach
39	chr4:148891400-148905400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:148891600-148896000	Weak transcription	NHDF-Ad	bronchial
41	chr4:148891600-148896400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr4:148891600-148896400	Weak transcription	Left Ventricle	heart
43	chr4:148891600-148896400	Weak transcription	Ovary	ovary
44	chr4:148891600-148896800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:148891600-148896800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr4:148891600-148905400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:148891600-148912800	Weak transcription	Fetal Kidney	kidney
48	chr4:148891600-148920600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:148891600-148928000	Weak transcription	A549	lung
50	chr4:148891800-148896400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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