Variant report

Variant	nsv1008401
Chromosome Location	chr1:187268766-187319359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:187269207..187270840-chr1:187278249..187280052,2	K562	blood:
2	chr1:187289148..187290650-chr1:187308848..187310428,2	K562	blood:
3	chr1:187306897..187309315-chr1:187310085..187312061,2	MCF-7	breast:
4	chr1:187272435..187275262-chr1:187278841..187280907,2	MCF-7	breast:
5	chr1:187281535..187284604-chr1:187285163..187288772,3	K562	blood:
6	chr1:187281958..187282804-chr1:188401492..188402253,2	MCF-7	breast:
7	chr1:187281535..187283136-chr1:187285163..187287711,2	K562	blood:
8	chr1:187281535..187283136-chr1:187285163..187287711,2	K562	blood:
9	chr1:187289148..187290650-chr1:187308848..187310428,2	K562	blood:
10	chr1:187269207..187270840-chr1:187278249..187280052,2	K562	blood:
11	chr1:187306897..187309315-chr1:187310085..187312061,2	MCF-7	breast:
12	chr1:187272435..187275262-chr1:187278841..187280907,2	MCF-7	breast:
13	chr1:187281535..187284604-chr1:187285163..187288772,3	K562	blood:
14	chr1:187234151..187234726-chr1:187293743..187294632,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLA2G4A-1	chr1:187298123-187298211	NONHSAT008460
2	lnc-PLA2G4A-1	chr1:187295873-187296156	FPKM1_group_1855_transcript_1
3	lnc-PLA2G4A-1	chr1:187272598-187272671	XLOC_000497
4	lnc-PLA2G4A-1	chr1:187272472-187273016	NONHSAT008459
5	lnc-PLA2G4A-1	chr1:187296098-187296186	FPKM1_group_1855_transcript_1
6	lnc-PLA2G4A-1	chr1:187295873-187296156	NONHSAT008460
7	lnc-PLA2G4A-1	chr1:187298123-187298192	XLOC_000497

No data

Extended variants
information (count: 324 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10912044	chr1:187268766-187268767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148992548	chr1:187268773-187268774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185368688	chr1:187268808-187268809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12077066	chr1:187268867-187268868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571583684	chr1:187268890-187268891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189838521	chr1:187268941-187268942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182625653	chr1:187268946-187268947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568825377	chr1:187268950-187268951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536099915	chr1:187268955-187268956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536750456	chr1:187268977-187268978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572986584	chr1:187268989-187268990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533685578	chr1:187269002-187269003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115522327	chr1:187269013-187269014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575283139	chr1:187269020-187269021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576837954	chr1:187269143-187269144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1390497	chr1:187269144-187269145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs74137127	chr1:187269180-187269181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557790104	chr1:187269218-187269219	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543338915	chr1:187269253-187269254	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561362012	chr1:187269270-187269271	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528666358	chr1:187269280-187269281	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546804272	chr1:187269314-187269315	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191981241	chr1:187269321-187269322	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573303408	chr1:187269323-187269324	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532435400	chr1:187269349-187269350	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115962634	chr1:187269355-187269356	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540839852	chr1:187269395-187269396	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536187665	chr1:187269411-187269412	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548066378	chr1:187269423-187269424	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78397610	chr1:187269437-187269438	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534015665	chr1:187269466-187269467	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12724457	chr1:187269467-187269468	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs36016753	chr1:187269477-187269478	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542183391	chr1:187269483-187269484	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558666051	chr1:187269563-187269564	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183900844	chr1:187269565-187269566	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12036055	chr1:187269578-187269579	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs539893629	chr1:187272482-187272483	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs558229528	chr1:187272586-187272587	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs539771457	chr1:187272589-187272590	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs181093366	chr1:187272611-187272612	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs374977207	chr1:187272628-187272629	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs76272082	chr1:187272649-187272650	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs573846246	chr1:187272671-187272672	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs74758530	chr1:187272674-187272675	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs12064814	chr1:187272684-187272685	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs532932793	chr1:187272714-187272715	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs12059978	chr1:187272715-187272716	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs12732789	chr1:187272716-187272717	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs185998466	chr1:187272718-187272719	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:187267400-187269200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:187269200-187269400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:187269200-187269600	Enhancers	Fetal Heart	heart
4	chr1:187269400-187269600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:187276000-187276200	Enhancers	Aorta	Aorta
6	chr1:187276000-187276800	Enhancers	Fetal Brain Male	brain
7	chr1:187278400-187278600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:187278800-187279600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:187279600-187279800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:187279800-187280400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:187280600-187280800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:187282000-187283000	Enhancers	Hela-S3	cervix
13	chr1:187282200-187283000	Enhancers	HUVEC	blood vessel
14	chr1:187284400-187284800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:187295400-187296200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:187305600-187306000	Enhancers	Fetal Heart	heart
17	chr1:187308200-187308400	ZNF genes & repeats	Aorta	Aorta

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