Variant report

Variant	nsv980460
Chromosome Location	chr4:95846294-95850077
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	chr4:95848217..95850324-chr4:95853544..95856534,2	MCF-7	breast:

Extended variants
information (count: 134 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138239912	chr4:95846332-95846333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183014164	chr4:95846335-95846336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116413678	chr4:95846358-95846359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576806974	chr4:95846398-95846399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149084141	chr4:95846400-95846401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529753002	chr4:95846427-95846428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1296143	chr4:95846470-95846471	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575058908	chr4:95846481-95846482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533527078	chr4:95846519-95846520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563059645	chr4:95846532-95846533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377184236	chr4:95846576-95846577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553688055	chr4:95846577-95846578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531958686	chr4:95846588-95846589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186367748	chr4:95846642-95846643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191120555	chr4:95846649-95846650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571973528	chr4:95846659-95846660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143145350	chr4:95846705-95846706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547465799	chr4:95846707-95846708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567698619	chr4:95846718-95846719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114115880	chr4:95846774-95846775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563900496	chr4:95846785-95846786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3775021	chr4:95846802-95846803	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538467520	chr4:95846820-95846821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17022619	chr4:95846851-95846852	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572258470	chr4:95846855-95846856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3775022	chr4:95846892-95846893	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs554248877	chr4:95846901-95846902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148268622	chr4:95846916-95846917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141814781	chr4:95846924-95846925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3775023	chr4:95846962-95846963	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs533134982	chr4:95847079-95847080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182964305	chr4:95847083-95847084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565520082	chr4:95847093-95847094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527973948	chr4:95847119-95847120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548097997	chr4:95847124-95847125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546659871	chr4:95847141-95847142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77421020	chr4:95847149-95847150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530121978	chr4:95847159-95847160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116734085	chr4:95847194-95847195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112926290	chr4:95847207-95847208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367895486	chr4:95847212-95847213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146852740	chr4:95847217-95847218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116203405	chr4:95847225-95847226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538402534	chr4:95847369-95847370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79047511	chr4:95847378-95847379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs137857568	chr4:95847415-95847416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116021988	chr4:95847417-95847418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574324619	chr4:95847451-95847452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537049044	chr4:95847476-95847477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376659797	chr4:95847490-95847491	Enhancers 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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95831000-95855000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:95838400-95848200	Weak transcription	Ovary	ovary
3	chr4:95842200-95848400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:95845600-95846400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:95845600-95846400	Enhancers	HMEC	breast
6	chr4:95845800-95846400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:95845800-95848200	Enhancers	A549	lung
8	chr4:95846200-95847400	Weak transcription	NHEK	skin
9	chr4:95846400-95848200	Weak transcription	HMEC	breast
10	chr4:95846600-95847200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:95847000-95847200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:95847200-95847600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:95847200-95847600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:95847200-95848200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:95847400-95847600	Enhancers	NHEK	skin
16	chr4:95847400-95849200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr4:95847600-95848000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:95847600-95848600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:95847600-95849600	Weak transcription	NHEK	skin
20	chr4:95848000-95849200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:95848200-95848800	Enhancers	HMEC	breast
22	chr4:95848200-95849000	Flanking Active TSS	A549	lung
23	chr4:95848200-95849200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:95848200-95849200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:95848200-95849200	Enhancers	Fetal Kidney	kidney
26	chr4:95848200-95849600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:95848200-95849600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:95848200-95849600	Enhancers	Ovary	ovary
29	chr4:95848200-95849800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:95848400-95848800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:95848400-95849400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:95848400-95849400	Enhancers	Stomach Smooth Muscle	stomach
33	chr4:95848400-95849600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:95848400-95849800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:95848400-95849800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:95848600-95849000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:95848600-95849200	Enhancers	NH-A	brain
38	chr4:95848600-95850200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:95848800-95849200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:95848800-95849200	Enhancers	Aorta	Aorta
41	chr4:95848800-95849600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:95848800-95849600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:95848800-95849600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:95848800-95849600	Enhancers	Brain Germinal Matrix	brain
45	chr4:95848800-95849800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr4:95849000-95850400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:95849000-95850600	Enhancers	A549	lung
48	chr4:95849200-95850200	Weak transcription	Fetal Kidney	kidney
49	chr4:95849200-95850800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:95849200-95852400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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