Variant report

Variant	nsv964625
Chromosome Location	chr22:33290181-33292080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33287953..33290636-chr22:33290639..33293438,2	MCF-7	breast:
2	chr22:33287953..33290636-chr22:33290639..33293438,2	MCF-7	breast:
3	22:31864703-31891033..22:33288947-33297113	K562	blood:
4	22:32868055-32872511..22:33288947-33297113	Hela-S3	cervix:
5	22:32477762-32487457..22:33288947-33297113	K562	blood:
6	22:32920308-32927723..22:33288947-33297113	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000198089	chromatin interactions
ENSG00000185666	chromatin interactions
ENSG00000100170	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000100225	chromatin interactions
ENSG00000199248	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 65 )

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	rs137516	chr22:33290188-33290189	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs560258388	chr22:33290212-33290213	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs150678653	chr22:33290214-33290215	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs541655822	chr22:33290264-33290265	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs111418459	chr22:33290285-33290286	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs530703397	chr22:33290331-33290332	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs550604397	chr22:33290333-33290334	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs11912426	chr22:33290338-33290339	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs140907502	chr22:33290375-33290376	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs532999449	chr22:33290429-33290430	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs144942839	chr22:33290450-33290451	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs546617487	chr22:33290484-33290485	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs117479318	chr22:33290487-33290488	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs535530371	chr22:33290559-33290560	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs555408104	chr22:33290560-33290561	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs569376424	chr22:33290565-33290566	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs538391323	chr22:33290614-33290615	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs117743707	chr22:33290650-33290651	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs577912093	chr22:33290677-33290678	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs189817320	chr22:33290684-33290685	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs7511413	chr22:33290691-33290692	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs535745571	chr22:33290759-33290760	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs553732909	chr22:33290779-33290780	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs373788967	chr22:33290825-33290826	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs542775571	chr22:33290835-33290836	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs562953037	chr22:33290927-33290928	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs530627464	chr22:33290978-33290979	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs544386650	chr22:33290990-33290991	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs5998650	chr22:33291000-33291001	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs533259749	chr22:33291013-33291014	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs2016156	chr22:33291029-33291030	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs182266404	chr22:33291053-33291054	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs79392106	chr22:33291124-33291125	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs147950168	chr22:33291150-33291151	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs2016169	chr22:33291162-33291163	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs568921271	chr22:33291181-33291182	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs538087022	chr22:33291203-33291204	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs370127234	chr22:33291213-33291214	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs558329325	chr22:33291336-33291337	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs139461443	chr22:33291342-33291343	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs534232909	chr22:33291399-33291400	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs541312935	chr22:33291400-33291401	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs149867819	chr22:33291406-33291407	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs187476050	chr22:33291411-33291412	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs137517	chr22:33291434-33291435	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs144888461	chr22:33291468-33291469	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs193259917	chr22:33291477-33291478	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs533337314	chr22:33291478-33291479	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs544123996	chr22:33291539-33291540	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs78148903	chr22:33291545-33291546	Weak transcription Enhancers	Chromatin interactive region	6 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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33277000-33302000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33283600-33299600	Weak transcription	Right Atrium	heart
3	chr22:33287800-33309600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:33287800-33312000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr22:33289000-33297200	Weak transcription	Fetal Heart	heart
6	chr22:33290000-33312000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:33291200-33294600	Enhancers	Placenta	Placenta

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