Variant report

Variant	esv3391103
Chromosome Location	chr1:103644464-103645462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548554103	chr1:103644466-103644467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566906329	chr1:103644511-103644512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368989700	chr1:103644522-103644523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12047707	chr1:103644545-103644546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181197572	chr1:103644556-103644557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185808552	chr1:103644563-103644564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568683456	chr1:103644581-103644582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557208318	chr1:103644600-103644601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201882989	chr1:103644655-103644656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12023281	chr1:103644676-103644677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141699325	chr1:103644683-103644684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536549162	chr1:103644698-103644699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190923415	chr1:103644724-103644725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563441815	chr1:103644726-103644727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376807704	chr1:103644750-103644751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539826061	chr1:103644755-103644756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558103175	chr1:103644816-103644817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576545130	chr1:103644822-103644823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543865960	chr1:103644823-103644824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12144252	chr1:103644889-103644890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373823603	chr1:103644905-103644906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562748551	chr1:103644909-103644910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566454622	chr1:103644917-103644918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372650714	chr1:103644921-103644922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530230040	chr1:103644943-103644944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12144257	chr1:103644949-103644950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs12129472	chr1:103644959-103644960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11376741	chr1:103644968-103644969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12075215	chr1:103644979-103644980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560605408	chr1:103645048-103645049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187218197	chr1:103645051-103645052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11164711	chr1:103645060-103645061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12736988	chr1:103645114-103645115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386634059	chr1:103645170-103645171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143893228	chr1:103645171-103645172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12737142	chr1:103645184-103645185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550250976	chr1:103645226-103645227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77896069	chr1:103645229-103645230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372961278	chr1:103645246-103645247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148609524	chr1:103645267-103645268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145951066	chr1:103645273-103645274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397946391	chr1:103645282-103645283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566675550	chr1:103645286-103645287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58822881	chr1:103645302-103645303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs142139042	chr1:103645318-103645319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191959278	chr1:103645319-103645320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183430684	chr1:103645324-103645325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555832223	chr1:103645330-103645331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187314800	chr1:103645333-103645334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556084508	chr1:103645338-103645339	Weak 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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103637200-103646000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:103644000-103646200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:103644400-103646400	Weak transcription	A549	lung

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