Variant report

Variant	nsv947058
Chromosome Location	chr1:224096718-224099733
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_-
2	lnc-PARP1-3	chr1:224098433-224099085	expRegAs_chr1_21128_-

Extended variants
information (count: 114 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202220497	chr1:224096754-224096755	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs567761949	chr1:224096764-224096765	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs112053357	chr1:224096841-224096842	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs535702389	chr1:224096899-224096900	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs557238553	chr1:224096949-224096950	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs575758997	chr1:224096952-224096953	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs4120673	chr1:224096979-224096980	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs183778672	chr1:224096984-224096985	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs376226239	chr1:224097004-224097005	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs4120672	chr1:224097017-224097018	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs573239908	chr1:224097068-224097069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4653622	chr1:224097069-224097070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186267315	chr1:224097073-224097074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12089517	chr1:224097105-224097106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190733427	chr1:224097111-224097112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542111819	chr1:224097149-224097150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4653621	chr1:224097155-224097156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371216722	chr1:224097173-224097174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4120670	chr1:224097178-224097179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530864514	chr1:224097188-224097189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552073359	chr1:224097240-224097241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200567897	chr1:224097255-224097256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528168535	chr1:224097258-224097259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150267676	chr1:224097259-224097260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4653620	chr1:224097278-224097279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111643173	chr1:224097290-224097291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368871978	chr1:224097292-224097293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542753141	chr1:224097294-224097295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4102659	chr1:224097310-224097311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4102660	chr1:224097351-224097352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3856158	chr1:224097353-224097354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12044552	chr1:224097358-224097359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs9660081	chr1:224097409-224097410	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs201247959	chr1:224097415-224097416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2404582	chr1:224097424-224097425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569427725	chr1:224097446-224097447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145803273	chr1:224097463-224097464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187099058	chr1:224097487-224097488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs3992031	chr1:224097514-224097515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567058067	chr1:224097596-224097597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551187160	chr1:224097608-224097609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534247229	chr1:224097692-224097693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373851189	chr1:224097704-224097705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12044701	chr1:224097799-224097800	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs371226404	chr1:224097810-224097811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574056925	chr1:224097902-224097903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544597602	chr1:224097911-224097912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12044554	chr1:224097980-224097981	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs191551256	chr1:224097982-224097983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546122679	chr1:224097983-224097984	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224096200-224097400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr1:224097400-224099600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:224097800-224099000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:224099000-224100600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:224099600-224101600	Weak transcription	Primary monocytes fromperipheralblood	blood

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