Variant report

Variant	esv3365243
Chromosome Location	chr1:186825429-186827702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397821227	chr1:186825438-186825439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186791545	chr1:186825444-186825445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569045256	chr1:186825445-186825446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546355935	chr1:186825526-186825527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80156742	chr1:186825539-186825540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74585121	chr1:186825540-186825541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78912869	chr1:186825612-186825613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552144685	chr1:186825636-186825637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35260952	chr1:186825654-186825655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142076103	chr1:186825679-186825680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565551732	chr1:186825680-186825681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114333818	chr1:186825716-186825717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191212615	chr1:186825788-186825789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78020995	chr1:186825807-186825808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535206365	chr1:186825810-186825811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115487660	chr1:186825830-186825831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550012021	chr1:186825836-186825837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142379212	chr1:186825863-186825864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75169166	chr1:186825917-186825918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113490635	chr1:186826020-186826021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141670396	chr1:186826188-186826189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371016060	chr1:186826207-186826208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373845506	chr1:186826213-186826214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565525824	chr1:186826214-186826215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539090422	chr1:186826215-186826216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370244510	chr1:186826222-186826223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184792469	chr1:186826226-186826227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374035844	chr1:186826233-186826234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372492496	chr1:186826235-186826236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377077598	chr1:186826241-186826242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368646179	chr1:186826243-186826244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375022614	chr1:186826247-186826248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372788396	chr1:186826251-186826252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559879350	chr1:186826260-186826261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369064396	chr1:186826262-186826263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372971319	chr1:186826267-186826268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375354559	chr1:186826273-186826274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12071785	chr1:186826276-186826277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369155358	chr1:186826281-186826282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376200369	chr1:186826283-186826284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373215046	chr1:186826289-186826290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376942457	chr1:186826294-186826295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373434062	chr1:186826300-186826301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369976814	chr1:186826307-186826308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377452043	chr1:186826308-186826309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56264860	chr1:186826312-186826313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369386237	chr1:186826313-186826314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77460748	chr1:186826350-186826351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4651332	chr1:186826361-186826362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs76814388	chr1:186826362-186826363	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
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186800200-186827800	Weak transcription	NHEK	skin
2	chr1:186808600-186828200	Weak transcription	Pancreas	Pancrea
3	chr1:186808600-186830800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:186815200-186844800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:186817800-186839000	Weak transcription	Hela-S3	cervix
6	chr1:186818000-186831000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:186818000-186834600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:186818800-186828600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:186819000-186827800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:186822800-186828200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:186823000-186828000	Weak transcription	Fetal Brain Male	brain
12	chr1:186823800-186825800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:186823800-186826000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:186824000-186826000	Weak transcription	A549	lung
15	chr1:186824000-186826200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:186824200-186826000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:186824200-186832200	Weak transcription	HUVEC	blood vessel
18	chr1:186824400-186826200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:186824600-186826000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:186824800-186826800	Weak transcription	Fetal Lung	lung
21	chr1:186825200-186826800	Weak transcription	Adipose Nuclei	Adipose
22	chr1:186825400-186827600	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:186825400-186828200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr1:186825400-186828200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:186825400-186829800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:186825400-186843600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:186825800-186827800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:186826000-186829400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:186826000-186829600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:186826000-186833800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:186826200-186826600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:186826200-186827800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:186826600-186827200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:186826800-186827200	ZNF genes & repeats	Fetal Lung	lung
35	chr1:186827200-186834200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:186827600-186828800	Enhancers	Colon Smooth Muscle	Colon

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