Variant report

Variant	esv20450
Chromosome Location	chr22:33662527-33665397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374401977	chr22:33662527-33662528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544435519	chr22:33662542-33662543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112203016	chr22:33662549-33662550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564021753	chr22:33662550-33662551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532889773	chr22:33662591-33662592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566709547	chr22:33662655-33662656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377429370	chr22:33662672-33662673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559682842	chr22:33662760-33662761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146573825	chr22:33662794-33662795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549228303	chr22:33662797-33662798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141354346	chr22:33662803-33662804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568555249	chr22:33662852-33662853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79095829	chr22:33662864-33662865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531810859	chr22:33662920-33662921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551979725	chr22:33662925-33662926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185724603	chr22:33662941-33662942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76999968	chr22:33662953-33662954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58557150	chr22:33662989-33662990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145082415	chr22:33662991-33662992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554330023	chr22:33663015-33663016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12159268	chr22:33663029-33663030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190628636	chr22:33663034-33663035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555363795	chr22:33663043-33663044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575540269	chr22:33663058-33663059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537620104	chr22:33663083-33663084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371794293	chr22:33663090-33663091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181846418	chr22:33663091-33663092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577429311	chr22:33663099-33663100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539910622	chr22:33663108-33663109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559827246	chr22:33663190-33663191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186902955	chr22:33663196-33663197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376211638	chr22:33663199-33663200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556425315	chr22:33663206-33663207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563020324	chr22:33663219-33663220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575099469	chr22:33663248-33663249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188938203	chr22:33663256-33663257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140585590	chr22:33663289-33663290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565451535	chr22:33663309-33663310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150478675	chr22:33663346-33663347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6518816	chr22:33663351-33663352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs57743865	chr22:33663372-33663373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536643516	chr22:33663380-33663381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79733193	chr22:33663398-33663399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574183251	chr22:33663408-33663409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547262365	chr22:33663595-33663596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375786821	chr22:33663626-33663627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569040223	chr22:33663650-33663651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181347593	chr22:33663654-33663655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557785326	chr22:33663710-33663711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577368103	chr22:33663735-33663736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33660000-33666600	Weak transcription	Aorta	Aorta
2	chr22:33660000-33722800	Weak transcription	HSMMtube	muscle
3	chr22:33661600-33670600	Weak transcription	Lung	lung
4	chr22:33662000-33664400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr22:33664400-33672600	Enhancers	Primary B cells from peripheral blood	blood
6	chr22:33664600-33668800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:33664600-33669600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:33664800-33665200	Enhancers	GM12878-XiMat	blood
9	chr22:33664800-33666800	Enhancers	Primary B cells from cord blood	blood
10	chr22:33665200-33665600	Flanking Active TSS	GM12878-XiMat	blood
11	chr22:33665200-33672800	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links