Variant report

Variant	nsv947056
Chromosome Location	chr1:224095132-224096718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PARP1-4	chr1:224096672-224097019	expRegAs_chr1_21127_-

Extended variants
information (count: 50 )
Associated
traits (count: 96 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564456598	chr1:224095171-224095172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528485681	chr1:224095176-224095177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4092529	chr1:224095247-224095248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547634156	chr1:224095260-224095261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200165286	chr1:224095268-224095269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140469733	chr1:224095287-224095288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9287000	chr1:224095387-224095388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181669602	chr1:224095433-224095434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375276037	chr1:224095441-224095442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144435320	chr1:224095462-224095463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537104784	chr1:224095488-224095489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202051933	chr1:224095497-224095498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560480538	chr1:224095534-224095535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369593547	chr1:224095555-224095556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373025379	chr1:224095556-224095557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141404880	chr1:224095665-224095666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570395480	chr1:224095676-224095677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534345855	chr1:224095683-224095684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552580918	chr1:224095708-224095709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs80277718	chr1:224095728-224095729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3991825	chr1:224095772-224095773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3991826	chr1:224095783-224095784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs3991827	chr1:224095796-224095797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs3958384	chr1:224095815-224095816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185953771	chr1:224095830-224095831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535783145	chr1:224095835-224095836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557126096	chr1:224095870-224095871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3872179	chr1:224095900-224095901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3991829	chr1:224095909-224095910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs3991830	chr1:224095955-224095956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs3991831	chr1:224096004-224096005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575434893	chr1:224096010-224096011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3872178	chr1:224096020-224096021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs3991832	chr1:224096036-224096037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3872177	chr1:224096076-224096077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564437340	chr1:224096080-224096081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192436778	chr1:224096092-224096093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540241557	chr1:224096142-224096143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs3991834	chr1:224096204-224096205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200270394	chr1:224096286-224096287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562105678	chr1:224096322-224096323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142892690	chr1:224096384-224096385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530012879	chr1:224096437-224096438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548508325	chr1:224096457-224096458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113363274	chr1:224096520-224096521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563434020	chr1:224096565-224096566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530635727	chr1:224096633-224096634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552223401	chr1:224096676-224096677	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs570434866	chr1:224096681-224096682	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs201423647	chr1:224096687-224096688	Weak transcription	lncRNA	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224094400-224095200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:224094600-224095600	Weak transcription	Fetal Thymus	thymus
3	chr1:224095600-224096200	Enhancers	Fetal Thymus	thymus
4	chr1:224096000-224096200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:224096200-224097400	Weak transcription	Primary monocytes fromperipheralblood	blood

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