Variant report

Variant	nsv548409
Chromosome Location	chr1:187295740-187324278
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:3)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:187289148..187290650-chr1:187308848..187310428,2	K562	blood:
2	chr1:187306897..187309315-chr1:187310085..187312061,2	MCF-7	breast:
3	chr1:187306897..187309315-chr1:187310085..187312061,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLA2G4A-1	chr1:187296098-187296186	FPKM1_group_1855_transcript_1
2	lnc-PLA2G4A-1	chr1:187295873-187296156	FPKM1_group_1855_transcript_1
3	lnc-PLA2G4A-1	chr1:187298123-187298211	NONHSAT008460
4	lnc-PLA2G4A-1	chr1:187295873-187296156	NONHSAT008460
5	lnc-PLA2G4A-1	chr1:187298123-187298192	XLOC_000497

No data

Extended variants
information (count: 44 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1285496	chr1:187295740-187295741	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551873423	chr1:187295749-187295750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548448242	chr1:187295807-187295808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571299878	chr1:187295812-187295813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570558021	chr1:187295854-187295855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7536439	chr1:187295873-187295874	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74137140	chr1:187295880-187295881	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs140119470	chr1:187295891-187295892	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs538205816	chr1:187295909-187295910	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs150318662	chr1:187295960-187295961	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs568312936	chr1:187295977-187295978	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs2172978	chr1:187296004-187296005	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs7524786	chr1:187296013-187296014	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs71635410	chr1:187296046-187296047	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs137966040	chr1:187296117-187296118	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs72641762	chr1:187296118-187296119	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557404209	chr1:187296133-187296134	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs12407754	chr1:187296175-187296176	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs375320501	chr1:187298147-187298148	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs572772677	chr1:187298152-187298153	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs557330805	chr1:187305602-187305603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183251916	chr1:187305630-187305631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs56187535	chr1:187305678-187305679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555837669	chr1:187305688-187305689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573785410	chr1:187305695-187305696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187784296	chr1:187305730-187305731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552924955	chr1:187305748-187305749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577583473	chr1:187305757-187305758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545312442	chr1:187305788-187305789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192651197	chr1:187305801-187305802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575407949	chr1:187305867-187305868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575430079	chr1:187305898-187305899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7551230	chr1:187305948-187305949	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs35508237	chr1:187305989-187305990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72641764	chr1:187308204-187308205	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189302854	chr1:187308245-187308246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs376701683	chr1:187308269-187308270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs566762881	chr1:187308272-187308273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs150282996	chr1:187308306-187308307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs558760966	chr1:187308330-187308331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs576904464	chr1:187308342-187308343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs180965808	chr1:187308376-187308377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs185205649	chr1:187308388-187308389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs574361212	chr1:187308389-187308390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:187295400-187296200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:187305600-187306000	Enhancers	Fetal Heart	heart
3	chr1:187308200-187308400	ZNF genes & repeats	Aorta	Aorta

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