Variant report

Variant	esv1811943
Chromosome Location	chr4:130277165-130282466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6820523	chr4:130277165-130277166	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149493083	chr4:130277213-130277214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs55875663	chr4:130277218-130277219	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529341972	chr4:130277235-130277236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6820852	chr4:130277236-130277237	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs566207622	chr4:130277252-130277253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532959239	chr4:130277253-130277254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143960934	chr4:130277277-130277278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs59009573	chr4:130277283-130277284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73848203	chr4:130277286-130277287	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528656182	chr4:130277287-130277288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6820877	chr4:130277321-130277322	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530707958	chr4:130277337-130277338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567151999	chr4:130277359-130277360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76716555	chr4:130277402-130277403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550551425	chr4:130277404-130277405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552784190	chr4:130277410-130277411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577857811	chr4:130277447-130277448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570156054	chr4:130277521-130277522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546396890	chr4:130277579-130277580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12510780	chr4:130277583-130277584	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532663976	chr4:130277678-130277679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552560876	chr4:130277689-130277690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111291335	chr4:130277691-130277692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562074307	chr4:130277710-130277711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78515581	chr4:130277717-130277718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541464447	chr4:130277728-130277729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559573368	chr4:130277730-130277731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77546159	chr4:130277731-130277732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs118033134	chr4:130277768-130277769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75872996	chr4:130277775-130277776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530667050	chr4:130277792-130277793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549016620	chr4:130277832-130277833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567591249	chr4:130277837-130277838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534319410	chr4:130277863-130277864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185951327	chr4:130277883-130277884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534973642	chr4:130277895-130277896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141260698	chr4:130277898-130277899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146261195	chr4:130277926-130277927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139455108	chr4:130277933-130277934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576720970	chr4:130277938-130277939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537693229	chr4:130277946-130277947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143588890	chr4:130277952-130277953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574304918	chr4:130278004-130278005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568688707	chr4:130278036-130278037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559336312	chr4:130278037-130278038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577686022	chr4:130278058-130278059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61374476	chr4:130278091-130278092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146311721	chr4:130278096-130278097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113220912	chr4:130278132-130278133	Weak transcription	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130275400-130279600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:130275600-130277600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:130276000-130277400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:130276000-130277600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:130276200-130277200	Enhancers	Fetal Brain Female	brain
6	chr4:130276200-130277400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:130276200-130277600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:130276400-130277200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:130276400-130277200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:130276600-130277200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:130276600-130277200	Enhancers	Adipose Nuclei	Adipose
12	chr4:130276600-130277200	Enhancers	Rectal Smooth Muscle	rectum
13	chr4:130276600-130277200	Enhancers	NH-A	brain
14	chr4:130276600-130277200	Enhancers	Osteobl	bone
15	chr4:130276600-130279600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:130276800-130277200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:130276800-130279600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:130276800-130279800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:130277000-130277200	Enhancers	Colon Smooth Muscle	Colon
20	chr4:130277000-130277200	Flanking Active TSS	Fetal Heart	heart
21	chr4:130277000-130277800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:130277000-130279800	Weak transcription	Fetal Lung	lung
23	chr4:130277200-130277800	Enhancers	Fetal Heart	heart
24	chr4:130277200-130279600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:130277200-130279800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:130277200-130284000	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:130277400-130279000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:130277600-130284200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:130277800-130279200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:130279000-130281600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:130279200-130281600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:130279400-130280400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:130279600-130280000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:130279600-130280200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:130279600-130280400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr4:130279600-130280400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr4:130279600-130280400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:130279600-130280400	Enhancers	HUVEC	blood vessel
39	chr4:130279600-130280400	Enhancers	NH-A	brain
40	chr4:130279800-130280200	Enhancers	HSMMtube	muscle
41	chr4:130279800-130280400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:130279800-130280400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:130279800-130280400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:130279800-130280400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:130279800-130281200	Enhancers	Fetal Lung	lung
46	chr4:130280000-130280200	Enhancers	Osteobl	bone
47	chr4:130280000-130280400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr4:130280000-130280400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr4:130280000-130280400	Bivalent Enhancer	HMEC	breast
50	chr4:130280400-130283600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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