Variant report

Variant	nsv947541
Chromosome Location	chr1:104669284-104673898
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:104659954..104662571-chr1:104673545..104675551,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMY1C-2	chr1:104672444-104672483	XLOC_000326
2	lnc-AMY1C-2	chr1:104672443-104672483	NONHSAT004905

Extended variants
information (count: 182 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71655848	chr1:104669285-104669286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576133127	chr1:104669375-104669376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543485071	chr1:104669390-104669391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138142041	chr1:104669397-104669398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189519831	chr1:104669447-104669448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113460109	chr1:104669471-104669472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56175747	chr1:104669474-104669475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541044432	chr1:104669492-104669493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532990437	chr1:104669503-104669504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527573391	chr1:104669515-104669516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111875953	chr1:104669625-104669626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111264518	chr1:104669632-104669633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28438397	chr1:104669650-104669651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374359933	chr1:104669693-104669694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs55816437	chr1:104669811-104669812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527266300	chr1:104669898-104669899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531453956	chr1:104669916-104669917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563633095	chr1:104669920-104669921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549811749	chr1:104670011-104670012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531771560	chr1:104670109-104670110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55707930	chr1:104670141-104670142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568044458	chr1:104670235-104670236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs80004985	chr1:104670255-104670256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547071789	chr1:104670276-104670277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147185240	chr1:104670303-104670304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76358240	chr1:104670307-104670308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374739626	chr1:104670311-104670312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181026784	chr1:104670318-104670319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115977890	chr1:104670327-104670328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537233564	chr1:104670336-104670337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79714430	chr1:104670355-104670356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574047468	chr1:104670367-104670368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541455928	chr1:104670390-104670391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559445999	chr1:104670432-104670433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116281648	chr1:104670443-104670444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567134741	chr1:104670488-104670489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140612968	chr1:104670490-104670491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17019095	chr1:104670497-104670498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs78335058	chr1:104670505-104670506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187289393	chr1:104670520-104670521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561865687	chr1:104670539-104670540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74838985	chr1:104670548-104670549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547375400	chr1:104670560-104670561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192132022	chr1:104670621-104670622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372275315	chr1:104670642-104670643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150729851	chr1:104670646-104670647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183014023	chr1:104670707-104670708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537696662	chr1:104670717-104670718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186099725	chr1:104670775-104670776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548866845	chr1:104670782-104670783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	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
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
Multiple myeloma	17550852	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104668000-104669400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:104668400-104674800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:104669400-104678400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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