Variant report

Variant	esv3389082
Chromosome Location	chr1:239714679-239717027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141806741	chr1:239714682-239714683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12123624	chr1:239714715-239714716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs1992547	chr1:239714774-239714775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540965263	chr1:239714805-239714806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61544683	chr1:239714825-239714826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562267141	chr1:239714868-239714869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57811858	chr1:239714881-239714882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs36076970	chr1:239714891-239714892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1992548	chr1:239714922-239714923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183401804	chr1:239714925-239714926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548065474	chr1:239714996-239714997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74315542	chr1:239715003-239715004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376434592	chr1:239715004-239715005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533346015	chr1:239715032-239715033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139459155	chr1:239715051-239715052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570086139	chr1:239715082-239715083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371144745	chr1:239715106-239715107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113578992	chr1:239715113-239715114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371217985	chr1:239715142-239715143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537507383	chr1:239715188-239715189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186754045	chr1:239715219-239715220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143565133	chr1:239715238-239715239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191093778	chr1:239715245-239715246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553220584	chr1:239715294-239715295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571236543	chr1:239715325-239715326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373650812	chr1:239715362-239715363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565468242	chr1:239715372-239715373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538568094	chr1:239715389-239715390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532643349	chr1:239715509-239715510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201421095	chr1:239715515-239715516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372165073	chr1:239715540-239715541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546049378	chr1:239715566-239715567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556505468	chr1:239715587-239715588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564483057	chr1:239715609-239715610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531784463	chr1:239715620-239715621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574904851	chr1:239715622-239715623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199845706	chr1:239715673-239715674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35782356	chr1:239715740-239715741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542658616	chr1:239715744-239715745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554414271	chr1:239715762-239715763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182998503	chr1:239715774-239715775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144697360	chr1:239715782-239715783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148525530	chr1:239715789-239715790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368791454	chr1:239715806-239715807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113901251	chr1:239715807-239715808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559971678	chr1:239715827-239715828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61836572	chr1:239715838-239715839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs545729917	chr1:239715889-239715890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140296316	chr1:239715927-239715928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200903615	chr1:239715928-239715929	Weak transcription	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
Autism	22495311	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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239710800-239720600	Weak transcription	Stomach Mucosa	stomach
2	chr1:239711600-239718400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:239712000-239731000	Weak transcription	Gastric	stomach
4	chr1:239712200-239718400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:239712200-239718600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:239713000-239718800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:239713800-239718400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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