Variant report

Variant	esv3321729
Chromosome Location	chr5:180061446-180063544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:180048401..180050293-chr5:180059742..180062204,2	MCF-7	breast:

Extended variants
information (count: 116 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547052755	chr5:180061473-180061474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570331794	chr5:180061474-180061475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111523115	chr5:180061529-180061530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549671642	chr5:180061559-180061560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534646182	chr5:180061574-180061575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151276195	chr5:180061601-180061602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558986116	chr5:180061611-180061612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528666972	chr5:180061619-180061620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140492735	chr5:180061626-180061627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565900878	chr5:180061674-180061675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535145776	chr5:180061744-180061745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558237809	chr5:180061764-180061765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578225158	chr5:180061765-180061766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144695957	chr5:180061807-180061808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12518056	chr5:180061810-180061811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113267430	chr5:180061811-180061812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28452823	chr5:180061812-180061813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113628681	chr5:180061816-180061817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12657377	chr5:180061820-180061821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201690343	chr5:180061834-180061835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28550729	chr5:180061837-180061838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12653381	chr5:180061841-180061842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12657397	chr5:180061845-180061846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189521591	chr5:180061870-180061871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181814564	chr5:180061874-180061875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377210234	chr5:180061879-180061880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62407086	chr5:180061883-180061884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111208212	chr5:180061886-180061887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188593558	chr5:180061930-180061931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544072662	chr5:180061966-180061967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557272096	chr5:180061967-180061968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183274641	chr5:180061974-180061975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200609975	chr5:180061986-180061987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186219236	chr5:180061994-180061995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201660722	chr5:180062009-180062010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149996159	chr5:180062011-180062012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111217302	chr5:180062019-180062020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191769479	chr5:180062033-180062034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183574056	chr5:180062045-180062046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531145172	chr5:180062050-180062051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181045325	chr5:180062054-180062055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188244454	chr5:180062057-180062058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191514606	chr5:180062061-180062062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182789184	chr5:180062078-180062079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186826451	chr5:180062079-180062080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191402602	chr5:180062107-180062108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185112067	chr5:180062109-180062110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561738526	chr5:180062119-180062120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187817620	chr5:180062122-180062123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192974810	chr5:180062126-180062127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180046200-180071800	Weak transcription	Liver	Liver
2	chr5:180046400-180072200	Weak transcription	Right Atrium	heart
3	chr5:180056800-180068400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:180057800-180063000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:180059600-180065000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:180060000-180063200	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:180060600-180063200	Weak transcription	Right Ventricle	heart
8	chr5:180061000-180063200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:180061200-180063000	Weak transcription	Lung	lung
10	chr5:180061200-180063000	Weak transcription	Spleen	Spleen
11	chr5:180061200-180065000	Weak transcription	Left Ventricle	heart
12	chr5:180063000-180064000	Enhancers	Lung	lung
13	chr5:180063000-180064000	Enhancers	Spleen	Spleen
14	chr5:180063000-180064200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:180063200-180063400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:180063200-180063400	Enhancers	Fetal Muscle Leg	muscle
17	chr5:180063200-180063600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:180063200-180064200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:180063200-180064200	Enhancers	NH-A	brain
20	chr5:180063200-180064600	Enhancers	Right Ventricle	heart
21	chr5:180063400-180064000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr5:180063400-180064000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links