Variant report

Variant	nsv947054
Chromosome Location	chr1:224087051-224088911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569050011	chr1:224087250-224087251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs3992796	chr1:224087256-224087257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3992797	chr1:224087280-224087281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546122813	chr1:224087307-224087308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182971513	chr1:224087309-224087310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573404072	chr1:224087369-224087370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2126388	chr1:224087383-224087384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs3992798	chr1:224087396-224087397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540683034	chr1:224087419-224087420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562058033	chr1:224087447-224087448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367930928	chr1:224087489-224087490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3992799	chr1:224087518-224087519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573951365	chr1:224087559-224087560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373817863	chr1:224087565-224087566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562908214	chr1:224087587-224087588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530819098	chr1:224087588-224087589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112984945	chr1:224087589-224087590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375230142	chr1:224087602-224087603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2404289	chr1:224087606-224087607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3992800	chr1:224087608-224087609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143963852	chr1:224087612-224087613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3992801	chr1:224087613-224087614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201907065	chr1:224087627-224087628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2404290	chr1:224087632-224087633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3992802	chr1:224087682-224087683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3992803	chr1:224087707-224087708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187496421	chr1:224087708-224087709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200316355	chr1:224087715-224087716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12037893	chr1:224087777-224087778	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224085400-224087400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:224086200-224087600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:224087600-224087800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:224087600-224087800	Enhancers	Fetal Muscle Leg	muscle

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