Variant report

Variant	nsv947053
Chromosome Location	chr1:224085337-224087051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182888697	chr1:224085356-224085357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575063957	chr1:224085357-224085358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542200706	chr1:224085358-224085359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563535752	chr1:224085369-224085370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4102658	chr1:224085371-224085372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3872188	chr1:224085430-224085431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553499464	chr1:224085451-224085452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs3905211	chr1:224085511-224085512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531010642	chr1:224085557-224085558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367721720	chr1:224085559-224085560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2085953	chr1:224085608-224085609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2085954	chr1:224085636-224085637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377320866	chr1:224085652-224085653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573089254	chr1:224085659-224085660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142100667	chr1:224085671-224085672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56075662	chr1:224085672-224085673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199911922	chr1:224085675-224085676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74776611	chr1:224085676-224085677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200339712	chr1:224085677-224085678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1809316	chr1:224085680-224085681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546950794	chr1:224085681-224085682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568396282	chr1:224085682-224085683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141814495	chr1:224085688-224085689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146372750	chr1:224085694-224085695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562381146	chr1:224085698-224085699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537258899	chr1:224085761-224085762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9283407	chr1:224085779-224085780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570507676	chr1:224085780-224085781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534456865	chr1:224085826-224085827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552926411	chr1:224085842-224085843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574394701	chr1:224085861-224085862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531081596	chr1:224085870-224085871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557238441	chr1:224085937-224085938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575396636	chr1:224085947-224085948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375474110	chr1:224085963-224085964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369954567	chr1:224086022-224086023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564366991	chr1:224086088-224086089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372707930	chr1:224086186-224086187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528569986	chr1:224086191-224086192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73116456	chr1:224086215-224086216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs562068951	chr1:224086227-224086228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369738080	chr1:224086258-224086259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186446810	chr1:224086291-224086292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372886196	chr1:224086305-224086306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571712474	chr1:224086316-224086317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377480180	chr1:224086328-224086329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190915658	chr1:224086389-224086390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74966021	chr1:224086434-224086435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569988614	chr1:224086439-224086440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150399863	chr1:224086456-224086457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224077400-224085600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:224084000-224085600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:224084800-224086400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:224085000-224086000	Weak transcription	Psoas Muscle	Psoas
5	chr1:224085400-224087400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:224085600-224086200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:224086000-224086400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:224086000-224086400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:224086000-224086400	Enhancers	Psoas Muscle	Psoas
10	chr1:224086000-224086400	Enhancers	NHDF-Ad	bronchial
11	chr1:224086200-224087600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links