Variant report

Variant	nsv878767
Chromosome Location	chr4:26451326-26463490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:26455423..26458903-chr4:26462260..26464658,3	K562	blood:
2	chr4:26460549..26461471-chr4:26721284..26722071,3	K562	blood:
3	chr4:26460527..26461421-chr4:26721272..26722269,7	MCF-7	breast:
4	chr4:26455423..26458903-chr4:26462260..26464658,3	K562	blood:

Extended variants
information (count: 485 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6818128	chr4:26451326-26451327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182024275	chr4:26451335-26451336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79059108	chr4:26451359-26451360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144944980	chr4:26451425-26451426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537665492	chr4:26451443-26451444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557241538	chr4:26451478-26451479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534287219	chr4:26451487-26451488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80286612	chr4:26451601-26451602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534433867	chr4:26451636-26451637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554071058	chr4:26451653-26451654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577159037	chr4:26451688-26451689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147920547	chr4:26451690-26451691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13116206	chr4:26451697-26451698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185080559	chr4:26451711-26451712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190125340	chr4:26451752-26451753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114391738	chr4:26451757-26451758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572442683	chr4:26451760-26451761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6849728	chr4:26451762-26451763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376132689	chr4:26451835-26451836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181787109	chr4:26451836-26451837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2788858	chr4:26451874-26451875	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2725328	chr4:26451878-26451879	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140568608	chr4:26451885-26451886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35547887	chr4:26451916-26451917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113266273	chr4:26451917-26451918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562740771	chr4:26451924-26451925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531372705	chr4:26451950-26451951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547855460	chr4:26451998-26451999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529919392	chr4:26452039-26452040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533641013	chr4:26452048-26452049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543630459	chr4:26452049-26452050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150108321	chr4:26452065-26452066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28651022	chr4:26452154-26452155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs186337933	chr4:26452177-26452178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190119945	chr4:26452178-26452179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180826926	chr4:26452216-26452217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535888056	chr4:26452260-26452261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555464200	chr4:26452261-26452262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372680474	chr4:26452273-26452274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77879544	chr4:26452301-26452302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558258100	chr4:26452324-26452325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577129421	chr4:26452328-26452329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185237973	chr4:26452341-26452342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2788859	chr4:26452344-26452345	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs531505201	chr4:26452345-26452346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138556377	chr4:26452411-26452412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148821373	chr4:26452412-26452413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113345827	chr4:26452432-26452433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547104313	chr4:26452498-26452499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551852001	chr4:26452502-26452503	Weak transcription Enhancers	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
Breast cancer	17133270	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
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26423400-26459200	Weak transcription	Thymus	Thymus
2	chr4:26436400-26456400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:26440800-26454800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:26443400-26453200	Weak transcription	Osteobl	bone
5	chr4:26443600-26454200	Weak transcription	Fetal Lung	lung
6	chr4:26444200-26453600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:26445000-26461000	Weak transcription	HSMM	muscle
8	chr4:26446600-26456000	Weak transcription	HSMMtube	muscle
9	chr4:26451800-26452400	Enhancers	Colon Smooth Muscle	Colon
10	chr4:26452000-26452600	Enhancers	Pancreas	Pancrea
11	chr4:26452200-26452400	Enhancers	Ovary	ovary
12	chr4:26452400-26453400	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:26452400-26453600	Weak transcription	Ovary	ovary
14	chr4:26452600-26453600	Weak transcription	Pancreas	Pancrea
15	chr4:26453200-26453800	Enhancers	Osteobl	bone
16	chr4:26453200-26459600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:26453400-26454000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:26453400-26454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:26453400-26454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:26453400-26455000	Enhancers	Colon Smooth Muscle	Colon
21	chr4:26453400-26455200	Enhancers	Fetal Thymus	thymus
22	chr4:26453600-26454400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:26453600-26455000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:26453600-26455000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:26453600-26455000	Enhancers	Primary hematopoietic stem cells	blood
26	chr4:26453600-26455000	Enhancers	Rectal Smooth Muscle	rectum
27	chr4:26453600-26455200	Enhancers	Ovary	ovary
28	chr4:26453600-26455800	Enhancers	Pancreas	Pancrea
29	chr4:26453800-26454200	Enhancers	Fetal Stomach	stomach
30	chr4:26453800-26454600	Enhancers	Fetal Intestine Small	intestine
31	chr4:26453800-26454800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:26453800-26454800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:26453800-26455200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr4:26453800-26455200	Enhancers	HepG2	liver
35	chr4:26453800-26456800	Weak transcription	Osteobl	bone
36	chr4:26454000-26454400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:26454000-26454400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr4:26454000-26454600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:26454000-26454600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:26454000-26454600	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr4:26454000-26454800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr4:26454000-26454800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr4:26454000-26455000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:26454000-26455000	Enhancers	Stomach Mucosa	stomach
45	chr4:26454200-26454400	Enhancers	Fetal Lung	lung
46	chr4:26454200-26454800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr4:26454200-26454800	Enhancers	Fetal Intestine Large	intestine
48	chr4:26454200-26455200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:26454200-26455200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:26454200-26458000	Weak transcription	Fetal Stomach	stomach

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