Variant report

Variant	nsv544685
Chromosome Location	chr22:33861531-33891296
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: 1214 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1214 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377205213	chr22:33861557-33861558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575644347	chr22:33861561-33861562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139119559	chr22:33861605-33861606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181117245	chr22:33861627-33861628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149892657	chr22:33861635-33861636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546040436	chr22:33861659-33861660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559539872	chr22:33861705-33861706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9621703	chr22:33861721-33861722	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs184514433	chr22:33861741-33861742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573459300	chr22:33861791-33861792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561624895	chr22:33861795-33861796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375637080	chr22:33861803-33861804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73409014	chr22:33861818-33861819	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149076641	chr22:33861844-33861845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9621704	chr22:33861950-33861951	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542945690	chr22:33861951-33861952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369265825	chr22:33861976-33861977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546800512	chr22:33861977-33861978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73166292	chr22:33861979-33861980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566764612	chr22:33862023-33862024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142232075	chr22:33862029-33862030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146764575	chr22:33862074-33862075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140388501	chr22:33862090-33862091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs5994752	chr22:33862093-33862094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538256217	chr22:33862105-33862106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557836386	chr22:33862122-33862123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs16992399	chr22:33862124-33862125	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546076554	chr22:33862152-33862153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559676175	chr22:33862173-33862174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573122046	chr22:33862194-33862195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs5998953	chr22:33862239-33862240	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs544299126	chr22:33862287-33862288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372587854	chr22:33862297-33862298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561855478	chr22:33862321-33862322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557939075	chr22:33862330-33862331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111661215	chr22:33862339-33862340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188252542	chr22:33862351-33862352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145185909	chr22:33862356-33862357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529205279	chr22:33862357-33862358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531782005	chr22:33862362-33862363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11703108	chr22:33862377-33862378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116783361	chr22:33862453-33862454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367555572	chr22:33862488-33862489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs5754566	chr22:33862494-33862495	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs182083834	chr22:33862530-33862531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186371662	chr22:33862544-33862545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560367281	chr22:33862549-33862550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370510516	chr22:33862554-33862555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536083111	chr22:33862575-33862576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145022095	chr22:33862641-33862642	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:458 , 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	chr22:33860600-33862200	Enhancers	Fetal Heart	heart
5	chr22:33860800-33862200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr22:33860800-33862200	Enhancers	Right Ventricle	heart
7	chr22:33860800-33862400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr22:33860800-33864200	Enhancers	Right Atrium	heart
9	chr22:33860800-33864400	Enhancers	Left Ventricle	heart
10	chr22:33861000-33861600	Weak transcription	Pancreas	Pancrea
11	chr22:33861000-33862400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr22:33861000-33862600	Enhancers	Adipose Nuclei	Adipose
13	chr22:33861000-33863000	Weak transcription	Fetal Lung	lung
14	chr22:33861000-33863800	Weak transcription	Psoas Muscle	Psoas
15	chr22:33861200-33861800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr22:33861200-33862200	Enhancers	Brain Cingulate Gyrus	brain
17	chr22:33861200-33872200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:33861400-33861800	Enhancers	Aorta	Aorta
19	chr22:33861400-33861800	Enhancers	Brain Anterior Caudate	brain
20	chr22:33861400-33861800	Enhancers	Brain Hippocampus Middle	brain
21	chr22:33861400-33861800	Enhancers	Stomach Smooth Muscle	stomach
22	chr22:33861400-33862000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr22:33861400-33862000	Enhancers	Brain Substantia Nigra	brain
24	chr22:33861400-33862200	Enhancers	Brain Angular Gyrus	brain
25	chr22:33861400-33868800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr22:33861600-33861800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr22:33861600-33861800	Enhancers	Lung	lung
28	chr22:33861600-33861800	Enhancers	Pancreas	Pancrea
29	chr22:33861600-33861800	Enhancers	GM12878-XiMat	blood
30	chr22:33861800-33862800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:33861800-33862800	Weak transcription	Lung	lung
32	chr22:33861800-33866200	Weak transcription	GM12878-XiMat	blood
33	chr22:33861800-33868800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr22:33861800-33872800	Weak transcription	Pancreas	Pancrea
35	chr22:33862000-33862200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:33862200-33863200	Weak transcription	Right Ventricle	heart
37	chr22:33862200-33866400	Weak transcription	Fetal Heart	heart
38	chr22:33862200-33883000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr22:33862400-33863600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr22:33862400-33867600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr22:33862600-33863200	Weak transcription	Adipose Nuclei	Adipose
42	chr22:33862800-33863000	Enhancers	Lung	lung
43	chr22:33862800-33863600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr22:33862800-33863600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr22:33862800-33864000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr22:33863000-33863800	Weak transcription	Lung	lung
47	chr22:33863000-33864200	Enhancers	Fetal Lung	lung
48	chr22:33863200-33863400	Enhancers	Right Ventricle	heart
49	chr22:33863200-33864000	Enhancers	Adipose Nuclei	Adipose
50	chr22:33863200-33864000	Enhancers	Fetal Stomach	stomach

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