Variant report

Variant	nsv1011070
Chromosome Location	chr1:103134161-103159075
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:3)
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	chr1:103150135..103151670-chr1:103153167..103154816,2	K562	blood:
2	chr1:103125383..103127763-chr1:103133909..103135620,2	K562	blood:
3	chr1:103150135..103151670-chr1:103153167..103154816,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNPC3-3	chr1:103142328-103142403	XLOC_000322
2	lnc-RNPC3-3	chr1:103143040-103143147	XLOC_000322
3	lnc-RNPC3-3	chr1:103145340-103145365	XLOC_000322

No data

Extended variants
information (count: 39 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12747641	chr1:103142335-103142336	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572843876	chr1:103142379-103142380	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs554267242	chr1:103143041-103143042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs566493698	chr1:103143056-103143057	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs533639092	chr1:103143095-103143096	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs558244258	chr1:103143116-103143117	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs75245813	chr1:103146018-103146019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142951041	chr1:103146023-103146024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375489035	chr1:103146058-103146059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12090144	chr1:103146062-103146063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547211604	chr1:103146123-103146124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72992251	chr1:103146169-103146170	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs552060100	chr1:103146224-103146225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573024842	chr1:103146235-103146236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189836850	chr1:103146257-103146258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537382248	chr1:103146261-103146262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555726866	chr1:103146263-103146264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567579881	chr1:103146266-103146267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535100439	chr1:103146273-103146274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553205609	chr1:103146292-103146293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11808122	chr1:103146295-103146296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545602945	chr1:103146301-103146302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114064417	chr1:103146341-103146342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147113451	chr1:103153801-103153802	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs77101991	chr1:103153854-103153855	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs555718274	chr1:103153859-103153860	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs148097899	chr1:103153865-103153866	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs552321856	chr1:103153871-103153872	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs190730458	chr1:103153904-103153905	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs531599284	chr1:103153908-103153909	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs553046541	chr1:103153917-103153918	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs12354221	chr1:103153946-103153947	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs111835813	chr1:103154054-103154055	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs549079740	chr1:103154099-103154100	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs575810622	chr1:103154103-103154104	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs140590883	chr1:103154107-103154108	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs542924580	chr1:103154150-103154151	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs561254449	chr1:103154157-103154158	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs116506886	chr1:103154165-103154166	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103146000-103146400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:103153800-103154200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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