Variant report

Variant	esv3368519
Chromosome Location	chr1:161836581-161837077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373062303	chr1:161836634-161836635	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377411522	chr1:161836636-161836637	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142874823	chr1:161836718-161836719	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368290396	chr1:161836723-161836724	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527347922	chr1:161836727-161836728	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547391757	chr1:161836748-161836749	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570318202	chr1:161836757-161836758	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533299652	chr1:161836778-161836779	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550079463	chr1:161836791-161836792	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548832593	chr1:161836800-161836801	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371123046	chr1:161836812-161836813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535637693	chr1:161836823-161836824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191721926	chr1:161836839-161836840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12725121	chr1:161836843-161836844	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534783194	chr1:161836871-161836872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558151337	chr1:161836900-161836901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554201384	chr1:161836911-161836912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543749672	chr1:161836945-161836946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141993382	chr1:161836946-161836947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9729115	chr1:161836990-161836991	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542815146	chr1:161837001-161837002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9729669	chr1:161837015-161837016	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs527396375	chr1:161837016-161837017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540753818	chr1:161837017-161837018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200166445	chr1:161837024-161837025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183002688	chr1:161837039-161837040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112655874	chr1:161837040-161837041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	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
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	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
Breast cancer	21611746	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Cancer	17440070	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161773400-161854400	Weak transcription	Small Intestine	intestine
2	chr1:161780600-161836600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:161791800-161842000	Weak transcription	Brain Angular Gyrus	brain
4	chr1:161792200-161838000	Weak transcription	Fetal Brain Male	brain
5	chr1:161795200-161860200	Weak transcription	Lung	lung
6	chr1:161795800-161859000	Weak transcription	Pancreas	Pancrea
7	chr1:161805800-161838200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:161805800-161846200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:161808400-161863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:161808600-161840200	Weak transcription	Right Ventricle	heart
11	chr1:161808800-161858800	Weak transcription	Spleen	Spleen
12	chr1:161809400-161838000	Weak transcription	HMEC	breast
13	chr1:161811400-161838400	Strong transcription	Primary B cells from cord blood	blood
14	chr1:161811800-161838200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:161819800-161852600	Weak transcription	NHDF-Ad	bronchial
16	chr1:161820600-161849200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:161823600-161839200	Weak transcription	Brain Anterior Caudate	brain
18	chr1:161823600-161842200	Weak transcription	Osteobl	bone
19	chr1:161823600-161858800	Weak transcription	Thymus	Thymus
20	chr1:161823800-161857000	Weak transcription	Ovary	ovary
21	chr1:161824000-161838200	Weak transcription	HSMMtube	muscle
22	chr1:161824000-161840400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:161824000-161842400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:161824000-161854400	Weak transcription	NH-A	brain
25	chr1:161824000-161859000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:161824200-161838000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:161824200-161838800	Weak transcription	Fetal Lung	lung
28	chr1:161824200-161841800	Weak transcription	NHEK	skin
29	chr1:161824200-161842200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:161824200-161854400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:161824200-161928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:161824400-161853200	Weak transcription	HSMM	muscle
33	chr1:161824400-161882000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:161824600-161853400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:161824600-161858600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:161824800-161839600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:161825200-161840600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:161825200-161855000	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:161825200-161856400	Weak transcription	K562	blood
40	chr1:161825600-161838200	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:161825600-161863200	Weak transcription	Fetal Heart	heart
42	chr1:161825800-161859200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:161826200-161858600	Weak transcription	Psoas Muscle	Psoas
44	chr1:161826200-161860400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:161826400-161837600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:161828200-161836800	Strong transcription	Liver	Liver
47	chr1:161829400-161838600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:161829600-161838000	Weak transcription	Stomach Mucosa	stomach
49	chr1:161829800-161838800	Weak transcription	Brain Germinal Matrix	brain
50	chr1:161830400-161844200	Weak transcription	Fetal Thymus	thymus

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