Variant report

Variant	esv3466210
Chromosome Location	chr4:130278902-130283300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186171603	chr4:130278945-130278946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568959207	chr4:130278968-130278969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536364050	chr4:130279002-130279003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190491221	chr4:130279020-130279021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567848883	chr4:130279040-130279041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201309946	chr4:130279071-130279072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374782120	chr4:130279074-130279075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34660638	chr4:130279082-130279083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183396202	chr4:130279100-130279101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553239715	chr4:130279203-130279204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571654892	chr4:130279226-130279227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538626228	chr4:130279240-130279241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556968661	chr4:130279248-130279249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575614739	chr4:130279314-130279315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188861436	chr4:130279341-130279342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13149187	chr4:130279342-130279343	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572984765	chr4:130279357-130279358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368597854	chr4:130279373-130279374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540480544	chr4:130279418-130279419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114678801	chr4:130279496-130279497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532486421	chr4:130279506-130279507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544194686	chr4:130279511-130279512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191952314	chr4:130279592-130279593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141907809	chr4:130279688-130279689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529707475	chr4:130279705-130279706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548274811	chr4:130279729-130279730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183007715	chr4:130279731-130279732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56131981	chr4:130279735-130279736	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs57784201	chr4:130279761-130279762	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187547925	chr4:130279833-130279834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538960586	chr4:130279837-130279838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556890795	chr4:130279869-130279870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146927000	chr4:130279877-130279878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536292301	chr4:130279893-130279894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56108227	chr4:130279940-130279941	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs147972136	chr4:130279972-130279973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540414774	chr4:130280086-130280087	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs558806040	chr4:130280122-130280123	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs577185026	chr4:130280176-130280177	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs367609357	chr4:130280179-130280180	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs75084268	chr4:130280185-130280186	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs562302109	chr4:130280206-130280207	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs529681936	chr4:130280217-130280218	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs563635260	chr4:130280222-130280223	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs112842037	chr4:130280224-130280225	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs565361199	chr4:130280404-130280405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191796013	chr4:130280475-130280476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183881513	chr4:130280511-130280512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117499261	chr4:130280549-130280550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568696126	chr4:130280592-130280593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung squamous cell carcinoma	22363434	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130275400-130279600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:130276600-130279600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:130276800-130279600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:130276800-130279800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:130277000-130279800	Weak transcription	Fetal Lung	lung
6	chr4:130277200-130279600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:130277200-130279800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:130277200-130284000	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:130277400-130279000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:130277600-130284200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:130277800-130279200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:130279000-130281600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:130279200-130281600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:130279400-130280400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:130279600-130280000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:130279600-130280200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:130279600-130280400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:130279600-130280400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:130279600-130280400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:130279600-130280400	Enhancers	HUVEC	blood vessel
21	chr4:130279600-130280400	Enhancers	NH-A	brain
22	chr4:130279800-130280200	Enhancers	HSMMtube	muscle
23	chr4:130279800-130280400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:130279800-130280400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:130279800-130280400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:130279800-130280400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:130279800-130281200	Enhancers	Fetal Lung	lung
28	chr4:130280000-130280200	Enhancers	Osteobl	bone
29	chr4:130280000-130280400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr4:130280000-130280400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr4:130280000-130280400	Bivalent Enhancer	HMEC	breast
32	chr4:130280400-130283600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:130280400-130283600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:130280400-130283800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:130280400-130283800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:130280400-130283800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:130280400-130283800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:130280400-130283800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:130280400-130283800	Weak transcription	HUVEC	blood vessel
40	chr4:130280400-130284000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:130280400-130284400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:130280400-130284600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:130280400-130284600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:130281600-130284400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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