Variant report

Variant	esv3368596
Chromosome Location	chr1:103646864-103649337
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	rs541210260	chr1:103646884-103646885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149125487	chr1:103646911-103646912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs60949157	chr1:103646919-103646920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs67504438	chr1:103646921-103646922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs68137445	chr1:103646922-103646923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs67726949	chr1:103646930-103646931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572892965	chr1:103646944-103646945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527513057	chr1:103647021-103647022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545613087	chr1:103647030-103647031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563903031	chr1:103647037-103647038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188044100	chr1:103647038-103647039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549998680	chr1:103647067-103647068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368378463	chr1:103647091-103647092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568010600	chr1:103647102-103647103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373475435	chr1:103647202-103647203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528871741	chr1:103647250-103647251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10081992	chr1:103647329-103647330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143292932	chr1:103647333-103647334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375959984	chr1:103647349-103647350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571523252	chr1:103647351-103647352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558392868	chr1:103647394-103647395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138846733	chr1:103647403-103647404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537392788	chr1:103647404-103647405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141769373	chr1:103647419-103647420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573986438	chr1:103647472-103647473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145484377	chr1:103647502-103647503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552918821	chr1:103647517-103647518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577729463	chr1:103647550-103647551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545057010	chr1:103647552-103647553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192484353	chr1:103647574-103647575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559372737	chr1:103647615-103647616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543392778	chr1:103647631-103647632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185037739	chr1:103647632-103647633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114310361	chr1:103647674-103647675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561189451	chr1:103647696-103647697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138006137	chr1:103647706-103647707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113865238	chr1:103647726-103647727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188984143	chr1:103647732-103647733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7517870	chr1:103647740-103647741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181669601	chr1:103647741-103647742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533063003	chr1:103647742-103647743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529668310	chr1:103647793-103647794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184024088	chr1:103647808-103647809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189605302	chr1:103647820-103647821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181596564	chr1:103647826-103647827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185922833	chr1:103647842-103647843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553808263	chr1:103647847-103647848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191163454	chr1:103647853-103647854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549440996	chr1:103647871-103647872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181812516	chr1:103647876-103647877	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103646000-103647200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr1:103646000-103647200	Enhancers	HSMM	muscle
3	chr1:103646000-103647200	Enhancers	NH-A	brain
4	chr1:103646000-103647400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:103646000-103647400	Enhancers	Fetal Heart	heart
6	chr1:103646800-103647200	Enhancers	A549	lung
7	chr1:103647200-103659400	Weak transcription	HSMM	muscle
8	chr1:103647400-103647600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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