Variant report

Variant	esv3418728
Chromosome Location	chr1:180271775-180274173
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535584139	chr1:180271788-180271789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548796001	chr1:180271804-180271805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375652784	chr1:180271870-180271871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113196568	chr1:180271894-180271895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9425490	chr1:180271915-180271916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28892286	chr1:180271934-180271935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6678916	chr1:180272122-180272123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9425491	chr1:180272150-180272151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568267549	chr1:180272191-180272192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367604174	chr1:180272321-180272322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372220829	chr1:180272346-180272347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201819901	chr1:180272400-180272401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375536967	chr1:180272417-180272418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573351143	chr1:180272454-180272455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375206735	chr1:180272513-180272514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200564775	chr1:180272534-180272535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542347274	chr1:180272573-180272574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111278548	chr1:180272588-180272589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188794308	chr1:180272592-180272593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142929397	chr1:180272597-180272598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372019376	chr1:180272603-180272604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564126864	chr1:180272604-180272605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201310764	chr1:180272608-180272609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192580685	chr1:180272618-180272619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183686650	chr1:180272632-180272633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150344444	chr1:180272650-180272651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529039706	chr1:180272652-180272653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138047422	chr1:180272660-180272661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568832883	chr1:180272718-180272719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531351071	chr1:180272740-180272741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551428934	chr1:180272747-180272748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569210413	chr1:180272763-180272764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571239909	chr1:180272795-180272796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199576806	chr1:180272796-180272797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553691007	chr1:180272857-180272858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567062120	chr1:180272898-180272899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145027702	chr1:180272899-180272900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374341696	chr1:180272910-180272911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555847746	chr1:180272936-180272937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188450326	chr1:180272968-180272969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544280839	chr1:180272988-180272989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181298976	chr1:180272990-180272991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577605804	chr1:180273029-180273030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540146107	chr1:180273037-180273038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560142725	chr1:180273038-180273039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144292294	chr1:180273045-180273046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376660976	chr1:180273048-180273049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59113753	chr1:180273091-180273092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs562686735	chr1:180273104-180273105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184300372	chr1:180273157-180273158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180244200-180278200	Weak transcription	HSMMtube	muscle
2	chr1:180245200-180282400	Weak transcription	Fetal Intestine Large	intestine
3	chr1:180245400-180280400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:180247800-180284200	Weak transcription	Fetal Thymus	thymus
5	chr1:180248800-180276400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:180250400-180279800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:180250600-180278600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:180254400-180280400	Weak transcription	Fetal Stomach	stomach
9	chr1:180254800-180282400	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:180257400-180278200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:180257400-180278600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:180257600-180289600	Weak transcription	Hela-S3	cervix
13	chr1:180257800-180278600	Weak transcription	HMEC	breast
14	chr1:180257800-180278600	Weak transcription	NHEK	skin
15	chr1:180257800-180279800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:180257800-180287200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:180257800-180296200	Weak transcription	Left Ventricle	heart
18	chr1:180258400-180285200	Weak transcription	Ovary	ovary
19	chr1:180259000-180271800	Weak transcription	Primary T cells from cord blood	blood
20	chr1:180259000-180278600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:180261200-180284200	Weak transcription	K562	blood
22	chr1:180262200-180276000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:180262400-180275000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:180262800-180280000	Weak transcription	Primary B cells from cord blood	blood
25	chr1:180264000-180278800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:180265600-180277600	Weak transcription	HepG2	liver
27	chr1:180267000-180275400	Weak transcription	Dnd41	blood
28	chr1:180267000-180284400	Weak transcription	GM12878-XiMat	blood
29	chr1:180268200-180282800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr1:180269000-180278200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:180269000-180278600	Weak transcription	HSMM	muscle
32	chr1:180269200-180275400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:180269200-180282000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:180271000-180278400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:180271000-180278600	Weak transcription	NHLF	lung
36	chr1:180271200-180277400	Weak transcription	A549	lung
37	chr1:180271600-180284600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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