Variant report

Variant	nsv461567
Chromosome Location	chr4:86673888-86677107
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	chr4:86669258..86671290-chr4:86671366..86674206,2	MCF-7	breast:

Extended variants
information (count: 119 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12507272	chr4:86673888-86673889	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533746071	chr4:86673952-86673953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142946723	chr4:86673958-86673959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114182941	chr4:86673959-86673960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147008305	chr4:86674022-86674023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555591477	chr4:86674124-86674125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13112030	chr4:86674140-86674141	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs578184133	chr4:86674151-86674152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539245871	chr4:86674160-86674161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534550767	chr4:86674164-86674165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13137008	chr4:86674199-86674200	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
12	rs572471232	chr4:86674213-86674214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543136771	chr4:86674262-86674263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548964406	chr4:86674299-86674300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17398237	chr4:86674335-86674336	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181603049	chr4:86674340-86674341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114262571	chr4:86674343-86674344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115148943	chr4:86674370-86674371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115495845	chr4:86674392-86674393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185873457	chr4:86674403-86674404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554504083	chr4:86674416-86674417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376213857	chr4:86674526-86674527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190199138	chr4:86674556-86674557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141403148	chr4:86674567-86674568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17010773	chr4:86674592-86674593	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567149987	chr4:86674604-86674605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562934534	chr4:86674748-86674749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114043386	chr4:86674761-86674762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78739361	chr4:86674772-86674773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529595497	chr4:86674852-86674853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182414006	chr4:86674853-86674854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386676894	chr4:86674874-86674875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115925391	chr4:86674875-86674876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572633441	chr4:86674987-86674988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73833234	chr4:86674997-86674998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531480493	chr4:86675116-86675117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555092902	chr4:86675137-86675138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72976711	chr4:86675146-86675147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs543418043	chr4:86675176-86675177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370299935	chr4:86675200-86675201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150817582	chr4:86675238-86675239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190919371	chr4:86675370-86675371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183943418	chr4:86675395-86675396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560081663	chr4:86675423-86675424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527529806	chr4:86675464-86675465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548759346	chr4:86675505-86675506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561049992	chr4:86675541-86675542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139314151	chr4:86675580-86675581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549824653	chr4:86675597-86675598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149577596	chr4:86675607-86675608	Weak transcription Enhancers	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
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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86663400-86699800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86664000-86675600	Weak transcription	Brain Anterior Caudate	brain
3	chr4:86665000-86674600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:86665600-86675600	Weak transcription	Adipose Nuclei	Adipose
5	chr4:86666000-86682400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr4:86667600-86678000	Weak transcription	Stomach Mucosa	stomach
7	chr4:86667800-86676400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr4:86667800-86676400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr4:86668000-86677800	Weak transcription	Right Atrium	heart
10	chr4:86669000-86675000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:86670400-86683600	Weak transcription	HSMMtube	muscle
12	chr4:86670600-86675800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:86670600-86680400	Weak transcription	HUVEC	blood vessel
14	chr4:86671600-86681800	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:86673000-86674200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:86673000-86679800	Weak transcription	Primary B cells from cord blood	blood
17	chr4:86673400-86674000	Enhancers	Primary B cells from peripheral blood	blood
18	chr4:86673400-86674200	Enhancers	Fetal Heart	heart
19	chr4:86673400-86674800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:86673400-86680600	Weak transcription	NHDF-Ad	bronchial
21	chr4:86673400-86682400	Weak transcription	Spleen	Spleen
22	chr4:86673400-86683400	Weak transcription	HSMM	muscle
23	chr4:86673600-86674600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:86673600-86675800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:86673600-86677600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:86673600-86681800	Weak transcription	Right Ventricle	heart
27	chr4:86673600-86683800	Weak transcription	Left Ventricle	heart
28	chr4:86674000-86679000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr4:86674200-86674600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:86674200-86675600	Weak transcription	Fetal Heart	heart
31	chr4:86674600-86674800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:86674600-86674800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr4:86674600-86674800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:86674600-86676000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:86674800-86677600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:86674800-86685400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:86675000-86676400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:86675400-86676200	Enhancers	Colon Smooth Muscle	Colon
39	chr4:86675600-86675800	Enhancers	Brain Anterior Caudate	brain
40	chr4:86675600-86676200	Enhancers	Fetal Heart	heart
41	chr4:86675600-86676600	Enhancers	Adipose Nuclei	Adipose
42	chr4:86675800-86676400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr4:86675800-86676400	Weak transcription	Brain Anterior Caudate	brain
44	chr4:86675800-86676600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:86676000-86676200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr4:86676000-86676400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:86676200-86680600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:86676200-86683000	Weak transcription	Colon Smooth Muscle	Colon
49	chr4:86676400-86676600	Enhancers	Brain Anterior Caudate	brain
50	chr4:86676400-86676800	Enhancers	Primary monocytes fromperipheralblood	blood

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