Variant report

Variant	nsv522808
Chromosome Location	chr1:194267401-194287896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:194272409..194275339-chr1:194275984..194279040,4	K562	blood:
2	chr1:194266672..194269041-chr1:194271611..194273227,2	K562	blood:
3	chr1:194277312..194279906-chr1:194286603..194288414,2	K562	blood:
4	chr1:194277312..194279906-chr1:194286603..194288414,2	K562	blood:
5	chr1:194286927..194289015-chr1:194296923..194299296,2	K562	blood:
6	chr1:194272409..194275339-chr1:194275984..194279040,4	K562	blood:
7	chr1:194266672..194269041-chr1:194271611..194273227,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B3GALT2-5	chr1:194280749-194281292	NONHSAT008580

No data

Extended variants
information (count: 120 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544373118	chr1:194268259-194268260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540495186	chr1:194268267-194268268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554754402	chr1:194268281-194268282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562652868	chr1:194268282-194268283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186887147	chr1:194268284-194268285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558942344	chr1:194268333-194268334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551568500	chr1:194268357-194268358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376750253	chr1:194268363-194268364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151258412	chr1:194268382-194268383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527588827	chr1:194268450-194268451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs16836637	chr1:194268458-194268459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567361776	chr1:194268526-194268527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190194593	chr1:194268560-194268561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16836639	chr1:194268571-194268572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571795325	chr1:194268642-194268643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538819819	chr1:194268653-194268654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141543331	chr1:194268654-194268655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572602067	chr1:194268698-194268699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114202639	chr1:194268715-194268716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555400450	chr1:194268788-194268789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574057342	chr1:194268794-194268795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545495972	chr1:194268795-194268796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559360971	chr1:194268861-194268862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569384857	chr1:194268867-194268868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146217946	chr1:194268869-194268870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147846389	chr1:194268917-194268918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528395129	chr1:194268921-194268922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182055644	chr1:194268944-194268945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139617997	chr1:194268947-194268948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560306242	chr1:194268950-194268951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145484438	chr1:194268963-194268964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527581712	chr1:194268968-194268969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548911563	chr1:194268974-194268975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560925643	chr1:194268991-194268992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186689189	chr1:194269018-194269019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541529241	chr1:194269068-194269069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551912744	chr1:194269072-194269073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531629060	chr1:194269098-194269099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193083127	chr1:194269111-194269112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571926517	chr1:194269159-194269160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71642973	chr1:194269178-194269179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560911084	chr1:194269180-194269181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145233243	chr1:194269182-194269183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549776277	chr1:194269275-194269276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571619363	chr1:194269287-194269288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539124313	chr1:194269289-194269290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1018625	chr1:194269400-194269401	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs141349889	chr1:194269402-194269403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536925971	chr1:194269447-194269448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1018626	chr1:194269455-194269456	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194268200-194268400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:194268400-194270000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:194269400-194270400	Enhancers	HUVEC	blood vessel
4	chr1:194270000-194270400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:194270000-194270400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:194278600-194279200	Enhancers	A549	lung

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