Variant report

Variant	nsv947194
Chromosome Location	chr1:103479322-103482565
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577408378	chr1:103479355-103479356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190377136	chr1:103479357-103479358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557623815	chr1:103479389-103479390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566616825	chr1:103479391-103479392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527708484	chr1:103479409-103479410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74391218	chr1:103479417-103479418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12042830	chr1:103479441-103479442	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs561240842	chr1:103479480-103479481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181735029	chr1:103479490-103479491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112951540	chr1:103479529-103479530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114545579	chr1:103479544-103479545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533150072	chr1:103479582-103479583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551418815	chr1:103479596-103479597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185134869	chr1:103479615-103479616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538336370	chr1:103479619-103479620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189601136	chr1:103479658-103479659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181282864	chr1:103479711-103479712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567032819	chr1:103479766-103479767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370621800	chr1:103479793-103479794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552649226	chr1:103479813-103479814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571549767	chr1:103479815-103479816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539206872	chr1:103479816-103479817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557398799	chr1:103479860-103479861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575867672	chr1:103479885-103479886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542664844	chr1:103479905-103479906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148063580	chr1:103479959-103479960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573271340	chr1:103479975-103479976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368384504	chr1:103480036-103480037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375756050	chr1:103480050-103480051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370981642	chr1:103480063-103480064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148610199	chr1:103480072-103480073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374636016	chr1:103480098-103480099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55851925	chr1:103480117-103480118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141770006	chr1:103480133-103480134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147920779	chr1:103480143-103480144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545363972	chr1:103480146-103480147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368647056	chr1:103480154-103480155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370997745	chr1:103480155-103480156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374324829	chr1:103480168-103480169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367921622	chr1:103480198-103480199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533188000	chr1:103480257-103480258	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545158324	chr1:103480278-103480279	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377056044	chr1:103480298-103480299	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563448212	chr1:103480373-103480374	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530795372	chr1:103480379-103480380	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs80225107	chr1:103480386-103480387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12140023	chr1:103480387-103480388	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs115895503	chr1:103480390-103480391	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546323063	chr1:103480399-103480400	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546063659	chr1:103480437-103480438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103369600-103498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:103386200-103482000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:103415800-103485200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:103446800-103497800	Weak transcription	HSMM	muscle
5	chr1:103449200-103545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:103453400-103490000	Weak transcription	NH-A	brain
7	chr1:103460200-103516400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:103469800-103486600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:103471400-103486600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:103474800-103483600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:103475800-103516600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:103476200-103486800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:103477600-103484800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:103478200-103479800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:103478600-103479400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:103479400-103487000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:103479800-103480600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:103480200-103480400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr1:103480600-103483200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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