Variant report

Variant	esv3386869
Chromosome Location	chr1:166708278-166710626
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61815049	chr1:166709618-166709619	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs477967	chr1:166709642-166709643	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs538447911	chr1:166709725-166709726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs520343	chr1:166709742-166709743	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs519563	chr1:166709788-166709789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527532372	chr1:166709795-166709796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534270146	chr1:166709811-166709812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs519466	chr1:166709820-166709821	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs77188559	chr1:166709845-166709846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545839526	chr1:166709877-166709878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150289162	chr1:166709907-166709908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576230024	chr1:166709926-166709927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12041825	chr1:166709931-166709932	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs116823899	chr1:166709944-166709945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185759971	chr1:166709985-166709986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371786150	chr1:166710048-166710049	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs139572384	chr1:166710072-166710073	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs75042106	chr1:166710074-166710075	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs181637192	chr1:166710152-166710153	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs532950574	chr1:166710212-166710213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549475934	chr1:166710215-166710216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568542057	chr1:166710299-166710300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569553795	chr1:166710327-166710328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185812946	chr1:166710357-166710358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs137989526	chr1:166710418-166710419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535790187	chr1:166710420-166710421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557279683	chr1:166710471-166710472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568658687	chr1:166710480-166710481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76044134	chr1:166710482-166710483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547880493	chr1:166710516-166710517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570825463	chr1:166710522-166710523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539845467	chr1:166710527-166710528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570665005	chr1:166710528-166710529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115270258	chr1:166710560-166710561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149047712	chr1:166710573-166710574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535354551	chr1:166710579-166710580	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
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
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166709600-166710400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr1:166710000-166710200	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:166710000-166710400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:166710000-166710400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:166710000-166710400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:166710000-166710600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:166710200-166710600	Enhancers	H9 Cell Line	embryonic stem cell

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