Variant report

Variant	nsv914985
Chromosome Location	chr22:33862494-33898368
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	chr17:31001718..31002627-chr22:33884453..33885240,2	MCF-7	breast:

Extended variants
information (count: 1483 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1483 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5754566	chr22:33862494-33862495	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182083834	chr22:33862530-33862531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186371662	chr22:33862544-33862545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560367281	chr22:33862549-33862550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370510516	chr22:33862554-33862555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536083111	chr22:33862575-33862576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145022095	chr22:33862641-33862642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190890451	chr22:33862662-33862663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182064297	chr22:33862664-33862665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372714851	chr22:33862668-33862669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536654371	chr22:33862679-33862680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71320977	chr22:33862680-33862681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71320978	chr22:33862700-33862701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2142927	chr22:33862701-33862702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140498991	chr22:33862705-33862706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs59248263	chr22:33862713-33862714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs66937057	chr22:33862714-33862715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76926210	chr22:33862736-33862737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553330648	chr22:33862763-33862764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573158976	chr22:33862774-33862775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150417946	chr22:33862786-33862787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186543888	chr22:33862850-33862851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548295558	chr22:33862878-33862879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568070866	chr22:33862883-33862884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs5994753	chr22:33862887-33862888	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563835904	chr22:33862893-33862894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191456962	chr22:33862909-33862910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539829305	chr22:33862931-33862932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560431249	chr22:33863004-33863005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138279219	chr22:33863035-33863036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549554531	chr22:33863056-33863057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182939715	chr22:33863081-33863082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531922700	chr22:33863096-33863097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551950174	chr22:33863114-33863115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34427908	chr22:33863132-33863133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78353550	chr22:33863141-33863142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186809000	chr22:33863169-33863170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2267213	chr22:33863218-33863219	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs566762003	chr22:33863220-33863221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535348457	chr22:33863224-33863225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555628009	chr22:33863284-33863285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575397179	chr22:33863308-33863309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533208567	chr22:33863314-33863315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557465943	chr22:33863360-33863361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577287416	chr22:33863368-33863369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539866449	chr22:33863391-33863392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146738360	chr22:33863392-33863393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529597005	chr22:33863406-33863407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542990099	chr22:33863416-33863417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563191815	chr22:33863458-33863459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33856000-33863200	Weak transcription	Ovary	ovary
2	chr22:33857000-33872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:33857600-33868200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:33860800-33864200	Enhancers	Right Atrium	heart
5	chr22:33860800-33864400	Enhancers	Left Ventricle	heart
6	chr22:33861000-33862600	Enhancers	Adipose Nuclei	Adipose
7	chr22:33861000-33863000	Weak transcription	Fetal Lung	lung
8	chr22:33861000-33863800	Weak transcription	Psoas Muscle	Psoas
9	chr22:33861200-33872200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:33861400-33868800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr22:33861800-33862800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:33861800-33862800	Weak transcription	Lung	lung
13	chr22:33861800-33866200	Weak transcription	GM12878-XiMat	blood
14	chr22:33861800-33868800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr22:33861800-33872800	Weak transcription	Pancreas	Pancrea
16	chr22:33862200-33863200	Weak transcription	Right Ventricle	heart
17	chr22:33862200-33866400	Weak transcription	Fetal Heart	heart
18	chr22:33862200-33883000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr22:33862400-33863600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr22:33862400-33867600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr22:33862600-33863200	Weak transcription	Adipose Nuclei	Adipose
22	chr22:33862800-33863000	Enhancers	Lung	lung
23	chr22:33862800-33863600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr22:33862800-33863600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr22:33862800-33864000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:33863000-33863800	Weak transcription	Lung	lung
27	chr22:33863000-33864200	Enhancers	Fetal Lung	lung
28	chr22:33863200-33863400	Enhancers	Right Ventricle	heart
29	chr22:33863200-33864000	Enhancers	Adipose Nuclei	Adipose
30	chr22:33863200-33864000	Enhancers	Fetal Stomach	stomach
31	chr22:33863200-33864000	Enhancers	Ovary	ovary
32	chr22:33863200-33864200	Enhancers	HepG2	liver
33	chr22:33863200-33864200	Enhancers	NHDF-Ad	bronchial
34	chr22:33863400-33863800	Weak transcription	Right Ventricle	heart
35	chr22:33863400-33864200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:33863600-33864000	Enhancers	Fetal Muscle Leg	muscle
37	chr22:33863600-33864000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr22:33863600-33872000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr22:33863800-33864000	Enhancers	Right Ventricle	heart
40	chr22:33863800-33864200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr22:33863800-33864200	Enhancers	Lung	lung
42	chr22:33863800-33864200	Enhancers	Psoas Muscle	Psoas
43	chr22:33864000-33867400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr22:33864000-33868200	Weak transcription	Right Ventricle	heart
45	chr22:33864000-33888200	Weak transcription	Fetal Stomach	stomach
46	chr22:33864000-33888200	Weak transcription	Ovary	ovary
47	chr22:33864200-33866200	Weak transcription	HepG2	liver
48	chr22:33864200-33867600	Weak transcription	Psoas Muscle	Psoas
49	chr22:33864200-33868000	Weak transcription	NHDF-Ad	bronchial
50	chr22:33864200-33868200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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