Variant report

Variant	esv1842590
Chromosome Location	chr1:104640211-104672052
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	chr1:104668178-104668541	NONHSAT004905
2	lnc-AMY1C-2	chr1:104668179-104668541	XLOC_000326

Extended variants
information (count: 377 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551626724	chr1:104646800-104646801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571906335	chr1:104646869-104646870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531117685	chr1:104646880-104646881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1411471	chr1:104646902-104646903	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537168665	chr1:104646910-104646911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555143738	chr1:104646944-104646945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1411472	chr1:104646982-104646983	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1411473	chr1:104646986-104646987	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192097686	chr1:104646991-104646992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577965779	chr1:104647011-104647012	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs111994920	chr1:104647013-104647014	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs57830228	chr1:104647028-104647029	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs61788842	chr1:104647083-104647084	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561553354	chr1:104647096-104647097	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs575404819	chr1:104647116-104647117	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs543109978	chr1:104647157-104647158	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs74459830	chr1:104647179-104647180	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528574748	chr1:104647192-104647193	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs188379624	chr1:104647213-104647214	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs565254444	chr1:104647307-104647308	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs372909480	chr1:104647328-104647329	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533303319	chr1:104647366-104647367	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs192851713	chr1:104647406-104647407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78330572	chr1:104647409-104647410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184226950	chr1:104647426-104647427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549072242	chr1:104647428-104647429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567291155	chr1:104647557-104647558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534714192	chr1:104647591-104647592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78689280	chr1:104648207-104648208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567466261	chr1:104648219-104648220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75423318	chr1:104648220-104648221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147530939	chr1:104648247-104648248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528190305	chr1:104648250-104648251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76871938	chr1:104648256-104648257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370219899	chr1:104648265-104648266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78027250	chr1:104648276-104648277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538205873	chr1:104648312-104648313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148517378	chr1:104648369-104648370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569494622	chr1:104648395-104648396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536927467	chr1:104648397-104648398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372478170	chr1:104648405-104648406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115682711	chr1:104648452-104648453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79226699	chr1:104648483-104648484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554349655	chr1:104648509-104648510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151023877	chr1:104648541-104648542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76300243	chr1:104648563-104648564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115938570	chr1:104648583-104648584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183967452	chr1:104648587-104648588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530742909	chr1:104648600-104648601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537908482	chr1:104661400-104661401	Enhancers	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104646800-104647000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:104647000-104647400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:104647400-104647600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:104648200-104648600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:104661400-104661800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:104663800-104664200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:104663800-104664400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:104664400-104668000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:104667400-104667800	Enhancers	Fetal Heart	heart
10	chr1:104667800-104669000	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:104667800-104669000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:104667800-104669200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:104668000-104668400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:104668000-104668400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr1:104668000-104669400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:104668200-104668800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:104668400-104674800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:104668600-104669000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:104669400-104678400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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