Variant report

Variant	esv2466608
Chromosome Location	chr5:152419335-152421158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564898436	chr5:152419342-152419343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529027543	chr5:152419362-152419363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541098969	chr5:152419365-152419366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560558958	chr5:152419375-152419376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184218741	chr5:152419403-152419404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150055624	chr5:152419408-152419409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571112984	chr5:152419429-152419430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531744230	chr5:152419430-152419431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73798899	chr5:152419438-152419439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568435547	chr5:152419568-152419569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73284277	chr5:152419692-152419693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs34696994	chr5:152419749-152419750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71502886	chr5:152419750-152419751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147756423	chr5:152419752-152419753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71251012	chr5:152419756-152419757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77586589	chr5:152419761-152419762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71588078	chr5:152419763-152419764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79823928	chr5:152419765-152419766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77069584	chr5:152419769-152419770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74502246	chr5:152419771-152419772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77317684	chr5:152419783-152419784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77555175	chr5:152419785-152419786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs36151766	chr5:152419786-152419787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs75730609	chr5:152419787-152419788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76954463	chr5:152419797-152419798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79370767	chr5:152419802-152419803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565553878	chr5:152419805-152419806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78146629	chr5:152419810-152419811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75881190	chr5:152419812-152419813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75289450	chr5:152419820-152419821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71523694	chr5:152419821-152419822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62038913	chr5:152419824-152419825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75743610	chr5:152419834-152419835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75023111	chr5:152419839-152419840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539217754	chr5:152419852-152419853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75381663	chr5:152419863-152419864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77139462	chr5:152419865-152419866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77269008	chr5:152419866-152419867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80156893	chr5:152419867-152419868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79092036	chr5:152419876-152419877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78353748	chr5:152419879-152419880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78502962	chr5:152419888-152419889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75071172	chr5:152419897-152419898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77632181	chr5:152419902-152419903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74561011	chr5:152419903-152419904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573566486	chr5:152419905-152419906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76711291	chr5:152419906-152419907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80343307	chr5:152419917-152419918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79293919	chr5:152419924-152419925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78114569	chr5:152419927-152419928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152409600-152423200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:152411000-152423800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:152413400-152423200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links