Variant report

Variant	esv1835672
Chromosome Location	chr1:104659907-104670141
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	chr1:104668179-104668541	XLOC_000326
2	lnc-AMY1C-2	chr1:104668178-104668541	NONHSAT004905

Extended variants
information (count: 249 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537908482	chr1:104661400-104661401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115348283	chr1:104661403-104661404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72689166	chr1:104661417-104661418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542552193	chr1:104661418-104661419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372939904	chr1:104661432-104661433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572698385	chr1:104661436-104661437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145310204	chr1:104661477-104661478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543478089	chr1:104661487-104661488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114600053	chr1:104661509-104661510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531710275	chr1:104661520-104661521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185057275	chr1:104661521-104661522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72989529	chr1:104661522-104661523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs113911594	chr1:104661594-104661595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547765423	chr1:104661610-104661611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373319455	chr1:104661620-104661621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72689167	chr1:104661621-104661622	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534079289	chr1:104661642-104661643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552103814	chr1:104661682-104661683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116437314	chr1:104663830-104663831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377471658	chr1:104663831-104663832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539465634	chr1:104663839-104663840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370311319	chr1:104663893-104663894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570047282	chr1:104663894-104663895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146862120	chr1:104663895-104663896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72689174	chr1:104663932-104663933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs574130978	chr1:104663951-104663952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534819057	chr1:104663957-104663958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553474108	chr1:104663959-104663960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191806790	chr1:104664005-104664006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35329105	chr1:104664032-104664033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184151967	chr1:104664088-104664089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563660039	chr1:104664091-104664092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576424357	chr1:104664096-104664097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72689176	chr1:104664097-104664098	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561871713	chr1:104664106-104664107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529125143	chr1:104664109-104664110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79583166	chr1:104664120-104664121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72689177	chr1:104664130-104664131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532869951	chr1:104664151-104664152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140652845	chr1:104664153-104664154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569282975	chr1:104664161-104664162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537352099	chr1:104664202-104664203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549226350	chr1:104664252-104664253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72689179	chr1:104664328-104664329	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs370035092	chr1:104664336-104664337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535270616	chr1:104664355-104664356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112358031	chr1:104664396-104664397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374846615	chr1:104664406-104664407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553270940	chr1:104664409-104664410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578076478	chr1:104664450-104664451	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104661400-104661800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:104663800-104664200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr1:104663800-104664400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:104664400-104668000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:104667400-104667800	Enhancers	Fetal Heart	heart
6	chr1:104667800-104669000	Enhancers	Primary hematopoietic stem cells	blood
7	chr1:104667800-104669000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:104667800-104669200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:104668000-104668400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:104668000-104668400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:104668000-104669400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:104668200-104668800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:104668400-104674800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:104668600-104669000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:104669400-104678400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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