Variant report

Variant	esv3449119
Chromosome Location	chr22:33339138-33341657
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	22:32846948-32860159..22:33339333-33353583	K562	blood:

Variant related genes	Relation type
ENSG00000184459	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148953082	chr22:33339138-33339139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192234763	chr22:33339146-33339147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2195084	chr22:33339165-33339166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148133889	chr22:33339203-33339204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530607333	chr22:33339270-33339271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111419638	chr22:33339311-33339312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544351860	chr22:33339355-33339356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564224741	chr22:33339379-33339380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533028461	chr22:33339380-33339381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184350382	chr22:33339457-33339458	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190454305	chr22:33339476-33339477	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182224692	chr22:33339494-33339495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185874652	chr22:33339528-33339529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528982226	chr22:33339529-33339530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188924120	chr22:33339565-33339566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569475878	chr22:33339637-33339638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538064673	chr22:33339690-33339691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181323928	chr22:33339695-33339696	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11703817	chr22:33339702-33339703	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs137566	chr22:33339736-33339737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs138536656	chr22:33339799-33339800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs367751888	chr22:33339812-33339813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574063183	chr22:33339818-33339819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185395920	chr22:33339821-33339822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191130774	chr22:33339830-33339831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540559691	chr22:33339886-33339887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs182648736	chr22:33339892-33339893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111691308	chr22:33339902-33339903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs111788940	chr22:33339908-33339909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576432195	chr22:33339912-33339913	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544095514	chr22:33339924-33339925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564270980	chr22:33339930-33339931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141481247	chr22:33339937-33339938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540113642	chr22:33339952-33339953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559763925	chr22:33339954-33339955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528848272	chr22:33339998-33339999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548924199	chr22:33340007-33340008	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562447160	chr22:33340036-33340037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs146216052	chr22:33340055-33340056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs185938334	chr22:33340065-33340066	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs138002926	chr22:33340075-33340076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12158682	chr22:33340081-33340082	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs548108792	chr22:33340082-33340083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs144075196	chr22:33340096-33340097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191981199	chr22:33340111-33340112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113037417	chr22:33340153-33340154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542562659	chr22:33340189-33340190	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs556490894	chr22:33340205-33340206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs542581355	chr22:33340209-33340210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537262817	chr22:33340220-33340221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Cancer	20164919	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33314000-33380800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33331400-33342800	Weak transcription	Fetal Heart	heart
3	chr22:33338000-33345200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:33340200-33346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr22:33341600-33349600	Weak transcription	Fetal Brain Male	brain

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