Variant report

Variant	nsv980124
Chromosome Location	chr4:28281577-28293004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:28279196..28281864-chr4:28281921..28283988,2	MCF-7	breast:
2	chr4:28168107..28169683-chr4:28286032..28288156,2	MCF-7	breast:
3	chr4:28279196..28281864-chr4:28281921..28283988,2	MCF-7	breast:

Extended variants
information (count: 443 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35702651	chr4:28281592-28281593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573777414	chr4:28281619-28281620	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553945805	chr4:28281651-28281652	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577244216	chr4:28281667-28281668	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547640323	chr4:28281731-28281732	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143294725	chr4:28281767-28281768	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556128022	chr4:28281843-28281844	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376908595	chr4:28281859-28281860	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576073391	chr4:28281899-28281900	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564236957	chr4:28281944-28281945	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183115992	chr4:28281945-28281946	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386672855	chr4:28281968-28281969	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10022732	chr4:28281984-28281985	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188780083	chr4:28282008-28282009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369358961	chr4:28282024-28282025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541591183	chr4:28282029-28282030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564560805	chr4:28282062-28282063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72493506	chr4:28282095-28282096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148312014	chr4:28282104-28282105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569624684	chr4:28282112-28282113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528908531	chr4:28282129-28282130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371694590	chr4:28282133-28282134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548974085	chr4:28282134-28282135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144533043	chr4:28282141-28282142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565984512	chr4:28282160-28282161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73806756	chr4:28282161-28282162	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564883502	chr4:28282244-28282245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140469484	chr4:28282312-28282313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73221881	chr4:28282327-28282328	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549606197	chr4:28282345-28282346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374399117	chr4:28282348-28282349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575988242	chr4:28282374-28282375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535479789	chr4:28282395-28282396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555506870	chr4:28282441-28282442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572684470	chr4:28282463-28282464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115545568	chr4:28282482-28282483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564702271	chr4:28282495-28282496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578220977	chr4:28282524-28282525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114046755	chr4:28282550-28282551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185058681	chr4:28282622-28282623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560993524	chr4:28282668-28282669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73221883	chr4:28282686-28282687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189560552	chr4:28282734-28282735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549723193	chr4:28282750-28282751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569802400	chr4:28282815-28282816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145632520	chr4:28282833-28282834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35619148	chr4:28282859-28282860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75602249	chr4:28282869-28282870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528375976	chr4:28282917-28282918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551433187	chr4:28282919-28282920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28279200-28282600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:28279400-28282400	Enhancers	NHEK	skin
3	chr4:28279600-28282000	Enhancers	Brain Hippocampus Middle	brain
4	chr4:28279600-28282000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr4:28279600-28282200	Enhancers	HMEC	breast
6	chr4:28279600-28282400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:28279600-28282600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:28279800-28281800	Enhancers	Brain Cingulate Gyrus	brain
9	chr4:28280000-28282600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:28280000-28282600	Enhancers	Brain Anterior Caudate	brain
11	chr4:28280600-28281600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:28280600-28283400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:28280800-28283800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:28280800-28284200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:28280800-28289600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:28280800-28293200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:28281000-28282000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:28281200-28282200	Weak transcription	Brain Substantia Nigra	brain
19	chr4:28281600-28282000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:28281600-28282000	Enhancers	HSMMtube	muscle
21	chr4:28281800-28282000	Enhancers	Pancreas	Pancrea
22	chr4:28282000-28282200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:28282000-28282400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:28282200-28282400	Enhancers	Brain Substantia Nigra	brain
25	chr4:28282400-28284600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:28282400-28288800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:28282600-28284600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:28283200-28284400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:28283400-28284600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr4:28283600-28284600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:28283800-28284200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr4:28283800-28284600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:28284200-28284400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:28284400-28284800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:28284600-28287200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:28284600-28289000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:28284800-28285000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr4:28285800-28286000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr4:28286600-28287400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:28287000-28287600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:28287200-28288800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:28287600-28287800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:28287600-28288600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:28288400-28291200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr4:28288600-28288800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
46	chr4:28288600-28289000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:28288600-28289400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:28288600-28289400	Enhancers	HSMM	muscle
49	chr4:28288600-28289400	Enhancers	NHDF-Ad	bronchial
50	chr4:28288600-28290600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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