Variant report

Variant	esv3470767
Chromosome Location	chr5:152420060-152421137
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564658496	chr5:152420067-152420068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531957447	chr5:152420088-152420089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191330778	chr5:152420137-152420138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561972473	chr5:152420147-152420148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147774795	chr5:152420158-152420159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547597574	chr5:152420191-152420192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17113912	chr5:152420241-152420242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs78814447	chr5:152420245-152420246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148841554	chr5:152420277-152420278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569493200	chr5:152420286-152420287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536979962	chr5:152420297-152420298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552849425	chr5:152420308-152420309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143509877	chr5:152420327-152420328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10075167	chr5:152420419-152420420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534564786	chr5:152420421-152420422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17491606	chr5:152420454-152420455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs76321071	chr5:152420471-152420472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150978467	chr5:152420508-152420509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62398782	chr5:152420533-152420534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116509475	chr5:152420577-152420578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34004416	chr5:152420586-152420587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369466517	chr5:152420627-152420628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140848848	chr5:152420639-152420640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73284282	chr5:152420661-152420662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs532390443	chr5:152420673-152420674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535760567	chr5:152420677-152420678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150164171	chr5:152420715-152420716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6887677	chr5:152420720-152420721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138783379	chr5:152420739-152420740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6887416	chr5:152420766-152420767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs6887443	chr5:152420827-152420828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs141854234	chr5:152420868-152420869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144941882	chr5:152420886-152420887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111838906	chr5:152420978-152420979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183821635	chr5:152421010-152421011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567513777	chr5:152421012-152421013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534605675	chr5:152421013-152421014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553048666	chr5:152421035-152421036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577688917	chr5:152421054-152421055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4958603	chr5:152421055-152421056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114910616	chr5:152421058-152421059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576582688	chr5:152421082-152421083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149369079	chr5:152421110-152421111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547715114	chr5:152421126-152421127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188739208	chr5:152421137-152421138	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