Variant report

Variant	esv3391885
Chromosome Location	chr1:242857629-242859677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188320140	chr1:242857638-242857639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556904336	chr1:242857673-242857674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530612746	chr1:242857697-242857698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375196080	chr1:242857710-242857711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140718542	chr1:242857757-242857758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193282414	chr1:242857766-242857767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540401173	chr1:242857767-242857768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560061316	chr1:242857783-242857784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532354614	chr1:242857811-242857812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150085570	chr1:242857815-242857816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78479103	chr1:242857836-242857837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531205620	chr1:242857837-242857838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535092731	chr1:242857840-242857841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547814455	chr1:242857983-242857984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2184183	chr1:242857990-242857991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185444154	chr1:242857997-242857998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555660903	chr1:242858042-242858043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570915387	chr1:242858083-242858084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567203839	chr1:242858107-242858108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376960471	chr1:242858156-242858157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540040459	chr1:242858238-242858239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550492449	chr1:242858246-242858247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570404131	chr1:242858263-242858264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs36208940	chr1:242858300-242858301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71570973	chr1:242858302-242858303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200839976	chr1:242858303-242858304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs67221746	chr1:242858330-242858331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74162206	chr1:242858334-242858335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377312978	chr1:242858335-242858336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78055207	chr1:242858342-242858343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74537795	chr1:242858344-242858345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75763720	chr1:242858350-242858351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77683142	chr1:242858352-242858353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201998261	chr1:242858359-242858360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78590959	chr1:242858363-242858364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75653110	chr1:242858370-242858371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75512291	chr1:242858378-242858379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12403832	chr1:242858381-242858382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs67786896	chr1:242858384-242858385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74162207	chr1:242858392-242858393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74199013	chr1:242858393-242858394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12068849	chr1:242858407-242858408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370622020	chr1:242858446-242858447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs66705732	chr1:242858451-242858452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373270956	chr1:242858453-242858454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373347157	chr1:242858464-242858465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200292759	chr1:242858466-242858467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12068888	chr1:242858471-242858472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs10926826	chr1:242858472-242858473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188869543	chr1:242858492-242858493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242856800-242861400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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