Variant report

Variant	esv3364048
Chromosome Location	chr1:239752104-239754127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567749692	chr1:239752107-239752108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189009126	chr1:239752213-239752214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191765880	chr1:239752214-239752215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149814479	chr1:239752222-239752223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542992711	chr1:239752240-239752241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565451112	chr1:239752256-239752257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371771186	chr1:239752270-239752271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534085040	chr1:239752280-239752281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558888588	chr1:239752298-239752299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145815085	chr1:239752381-239752382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533466084	chr1:239752386-239752387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183573782	chr1:239752448-239752449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574916245	chr1:239752449-239752450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111511832	chr1:239752514-239752515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560538820	chr1:239752574-239752575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572583931	chr1:239752603-239752604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77404522	chr1:239752619-239752620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564175589	chr1:239752663-239752664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531615283	chr1:239752742-239752743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537410762	chr1:239752795-239752796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549831956	chr1:239752804-239752805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72756792	chr1:239752841-239752842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs370736649	chr1:239752938-239752939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369973132	chr1:239752939-239752940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10592228	chr1:239752967-239752968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148999825	chr1:239752990-239752991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546997063	chr1:239753063-239753064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565388755	chr1:239753087-239753088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191833927	chr1:239753140-239753141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552728157	chr1:239753175-239753176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143826865	chr1:239753177-239753178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138579690	chr1:239753179-239753180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556553425	chr1:239753268-239753269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575227574	chr1:239753304-239753305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374130094	chr1:239753410-239753411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6429139	chr1:239753472-239753473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs141937269	chr1:239753510-239753511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563227916	chr1:239753523-239753524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375575595	chr1:239753562-239753563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574789067	chr1:239753641-239753642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572571786	chr1:239753705-239753706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553927594	chr1:239753735-239753736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546023580	chr1:239753795-239753796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369323203	chr1:239753802-239753803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182572753	chr1:239753813-239753814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576126311	chr1:239753826-239753827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543616613	chr1:239753869-239753870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561607159	chr1:239753874-239753875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186804583	chr1:239753888-239753889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558964775	chr1:239753947-239753948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Cancer	20164919	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	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
Prostate cancer	18632612	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 lymphomas	19863542	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
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239728800-239769400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:239744000-239761400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:239746400-239756200	Weak transcription	Gastric	stomach
4	chr1:239746600-239757600	Weak transcription	Pancreas	Pancrea
5	chr1:239747000-239754600	Weak transcription	Fetal Kidney	kidney
6	chr1:239747400-239753400	Weak transcription	Ovary	ovary
7	chr1:239750600-239753400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:239751000-239754400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:239751000-239761200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:239751800-239753600	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:239752000-239757000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:239753400-239753600	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr1:239753400-239753600	Enhancers	Ovary	ovary
14	chr1:239753400-239755400	Enhancers	Fetal Lung	lung
15	chr1:239753600-239753800	Enhancers	Colon Smooth Muscle	Colon
16	chr1:239753600-239754200	Weak transcription	Ovary	ovary
17	chr1:239753600-239754800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr1:239753800-239754400	Weak transcription	Colon Smooth Muscle	Colon

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