Variant report

Variant	esv3438453
Chromosome Location	chr1:94322264-94324762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561251105	chr1:94322298-94322299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531818319	chr1:94322309-94322310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549950522	chr1:94322314-94322315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182604947	chr1:94322338-94322339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538551521	chr1:94322344-94322345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547249342	chr1:94322346-94322347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112711651	chr1:94322347-94322348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536012800	chr1:94322348-94322349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7514828	chr1:94322388-94322389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs576095874	chr1:94322389-94322390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145114957	chr1:94322469-94322470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7367601	chr1:94322494-94322495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs141634328	chr1:94322495-94322496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531858569	chr1:94322528-94322529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7364910	chr1:94322546-94322547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs560735819	chr1:94322562-94322563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535410564	chr1:94322572-94322573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188457073	chr1:94322608-94322609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542884056	chr1:94322643-94322644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192287268	chr1:94322648-94322649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531760064	chr1:94322653-94322654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111948256	chr1:94322676-94322677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141640895	chr1:94322687-94322688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150579724	chr1:94322690-94322691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532338012	chr1:94322697-94322698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144599951	chr1:94322699-94322700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200309528	chr1:94322764-94322765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201548045	chr1:94322765-94322766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547310663	chr1:94322771-94322772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184516550	chr1:94322795-94322796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7364663	chr1:94322796-94322797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs548130725	chr1:94322822-94322823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199761078	chr1:94322849-94322850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139972210	chr1:94322850-94322851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200672857	chr1:94322858-94322859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569783905	chr1:94322911-94322912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188595761	chr1:94322926-94322927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536756399	chr1:94322951-94322952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558586788	chr1:94322958-94322959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570481406	chr1:94322964-94322965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558253712	chr1:94323028-94323029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534630433	chr1:94323042-94323043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7556107	chr1:94323073-94323074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs184221634	chr1:94323095-94323096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543304021	chr1:94323115-94323116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143431031	chr1:94323130-94323131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146721716	chr1:94323133-94323134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534002413	chr1:94323148-94323149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188850375	chr1:94323176-94323177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573981915	chr1:94323193-94323194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94314200-94332800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:94314200-94334200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:94314200-94334400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:94322200-94343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:94322600-94334200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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