Variant report

Variant	nsv521924
Chromosome Location	chr4:26843494-26844674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:26837390..26839392-chr4:26842052..26843597,2	K562	blood:
2	chr4:26843830..26846151-chr4:26857886..26860220,2	MCF-7	breast:
3	chr4:26837478..26839515-chr4:26843202..26845987,2	MCF-7	breast:
4	chr4:26842658..26844701-chr4:26856805..26859356,2	K562	blood:

Variant related genes	Relation type
ENSG00000109689	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3924178	chr4:26843494-26843495	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537294472	chr4:26843536-26843537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188477920	chr4:26843539-26843540	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181281584	chr4:26843547-26843548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536751745	chr4:26843566-26843567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs59430512	chr4:26843582-26843583	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550888001	chr4:26843614-26843615	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75711889	chr4:26843648-26843649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs78396873	chr4:26843649-26843650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577906538	chr4:26843708-26843709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185064162	chr4:26843717-26843718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540113100	chr4:26843763-26843764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563479503	chr4:26843807-26843808	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189874135	chr4:26843828-26843829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182600793	chr4:26843854-26843855	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187193640	chr4:26843892-26843893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554504078	chr4:26843931-26843932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369617454	chr4:26843947-26843948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373477063	chr4:26843952-26843953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376365379	chr4:26843957-26843958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545701025	chr4:26843962-26843963	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs35632935	chr4:26843963-26843964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374473959	chr4:26843964-26843965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs78704048	chr4:26843967-26843968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs28375187	chr4:26843969-26843970	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs71186490	chr4:26843984-26843985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs13139464	chr4:26844036-26844037	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs369605121	chr4:26844074-26844075	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs550714367	chr4:26844116-26844117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs567539227	chr4:26844123-26844124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536312881	chr4:26844143-26844144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374490986	chr4:26844157-26844158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs35908837	chr4:26844158-26844159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs55770975	chr4:26844179-26844180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs28488600	chr4:26844180-26844181	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs28671236	chr4:26844181-26844182	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570498738	chr4:26844206-26844207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553463970	chr4:26844208-26844209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs13115261	chr4:26844209-26844210	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
40	rs371607839	chr4:26844211-26844212	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs55989972	chr4:26844213-26844214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566728658	chr4:26844217-26844218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549191039	chr4:26844225-26844226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559002896	chr4:26844234-26844235	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569108586	chr4:26844242-26844243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs371195868	chr4:26844258-26844259	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs577966354	chr4:26844261-26844262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543762660	chr4:26844263-26844264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs199652138	chr4:26844269-26844270	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143229100	chr4:26844270-26844271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26840000-26858800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:26840600-26844200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr4:26841400-26845400	Weak transcription	Gastric	stomach
4	chr4:26841400-26858600	Weak transcription	Aorta	Aorta
5	chr4:26841600-26843600	Weak transcription	Right Atrium	heart
6	chr4:26841600-26858600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:26842400-26858800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:26842800-26845800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:26842800-26846400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:26843400-26858400	Weak transcription	Thymus	Thymus
11	chr4:26844200-26845200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr4:26844200-26845200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr4:26844400-26845000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr4:26844400-26845000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:26844600-26845000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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