Variant report

Variant	nsv947055
Chromosome Location	chr1:224088911-224095132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563465376	chr1:224094404-224094405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530941944	chr1:224094414-224094415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552526363	chr1:224094421-224094422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570796516	chr1:224094422-224094423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532431596	chr1:224094438-224094439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9726309	chr1:224094442-224094443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs538472229	chr1:224094459-224094460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10915981	chr1:224094463-224094464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202009909	chr1:224094475-224094476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10915982	chr1:224094495-224094496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547377940	chr1:224094525-224094526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565838545	chr1:224094594-224094595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536464263	chr1:224094631-224094632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554676141	chr1:224094647-224094648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569753539	chr1:224094663-224094664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371647758	chr1:224094667-224094668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536787843	chr1:224094741-224094742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558522411	chr1:224094805-224094806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576767147	chr1:224094807-224094808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541672587	chr1:224094888-224094889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553408241	chr1:224094937-224094938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375975186	chr1:224094944-224094945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574666610	chr1:224094984-224094985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542000206	chr1:224095022-224095023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139064044	chr1:224095023-224095024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17319038	chr1:224095033-224095034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546025573	chr1:224095096-224095097	Enhancers Weak transcription	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224094400-224094600	Enhancers	Fetal Thymus	thymus
2	chr1:224094400-224095200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:224094600-224095600	Weak transcription	Fetal Thymus	thymus

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