Variant report

Variant	esv3334173
Chromosome Location	chr5:42469395-42471393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr5:42469639-42469907	GM12878	blood:	n/a	n/a
2	MXI1	chr5:42469628-42469702	Hela-S3	cervix:	n/a	n/a
3	MYC	chr5:42469549-42469600	NB4	blood:	n/a	n/a

Variant related genes	Relation type
SERBP1P6	TF binding region
ENSG00000250860	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181571121	chr5:42469401-42469402	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376500612	chr5:42469413-42469414	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575504294	chr5:42469441-42469442	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566345062	chr5:42469448-42469449	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372930576	chr5:42469449-42469450	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2972413	chr5:42469456-42469457	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs151277463	chr5:42469513-42469514	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116210743	chr5:42469539-42469540	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529695082	chr5:42469542-42469543	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140527426	chr5:42469547-42469548	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561536450	chr5:42469550-42469551	Strong transcription Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs555456803	chr5:42469568-42469569	Strong transcription Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs147094347	chr5:42469636-42469637	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs541233645	chr5:42469642-42469643	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs534675425	chr5:42469659-42469660	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs553134087	chr5:42469758-42469759	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs186999765	chr5:42469759-42469760	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs564367220	chr5:42469781-42469782	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs115044187	chr5:42469815-42469816	Strong transcription Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs575528552	chr5:42469852-42469853	Strong transcription Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs542718823	chr5:42469854-42469855	Strong transcription Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs138520391	chr5:42469864-42469865	Strong transcription Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs528232760	chr5:42469879-42469880	Strong transcription Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs142662085	chr5:42469885-42469886	Strong transcription Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs190195284	chr5:42469983-42469984	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370356836	chr5:42469984-42469985	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533625762	chr5:42470004-42470005	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551793722	chr5:42470011-42470012	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146925406	chr5:42470061-42470062	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182589182	chr5:42470062-42470063	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550306799	chr5:42470131-42470132	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532770536	chr5:42470132-42470133	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112301882	chr5:42470155-42470156	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554549773	chr5:42470188-42470189	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34930204	chr5:42470189-42470190	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397882091	chr5:42470191-42470192	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555211280	chr5:42470192-42470193	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2972414	chr5:42470202-42470203	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs576938359	chr5:42470215-42470216	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35679524	chr5:42470256-42470257	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs67801991	chr5:42470257-42470258	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10668880	chr5:42470258-42470259	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200904154	chr5:42470278-42470279	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185042971	chr5:42470290-42470291	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534853107	chr5:42470301-42470302	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372659523	chr5:42470314-42470315	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541798910	chr5:42470334-42470335	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553286292	chr5:42470345-42470346	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571560616	chr5:42470350-42470351	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538892187	chr5:42470377-42470378	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42454800-42471800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:42455000-42469600	Weak transcription	Lung	lung
3	chr5:42455000-42474400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:42455000-42477400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:42462000-42471600	Weak transcription	Fetal Intestine Large	intestine
6	chr5:42462000-42472000	Weak transcription	Fetal Lung	lung
7	chr5:42462200-42470000	Weak transcription	Left Ventricle	heart
8	chr5:42462200-42470400	Weak transcription	Fetal Intestine Small	intestine
9	chr5:42462200-42470800	Weak transcription	Aorta	Aorta
10	chr5:42462200-42470800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:42462200-42471000	Weak transcription	Ovary	ovary
12	chr5:42462200-42471600	Weak transcription	Psoas Muscle	Psoas
13	chr5:42462200-42472200	Weak transcription	Fetal Heart	heart
14	chr5:42464400-42470000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:42466800-42472400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:42467000-42470000	Strong transcription	Liver	Liver
17	chr5:42467800-42470400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:42468200-42472600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:42468400-42470000	Strong transcription	Adipose Nuclei	Adipose
20	chr5:42468400-42484000	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:42469200-42471400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:42469200-42471400	Weak transcription	Fetal Stomach	stomach
23	chr5:42469600-42469800	ZNF genes & repeats	Lung	lung
24	chr5:42469800-42472400	Weak transcription	Right Ventricle	heart
25	chr5:42470000-42473200	Weak transcription	Adipose Nuclei	Adipose
26	chr5:42470000-42483000	Weak transcription	Liver	Liver
27	chr5:42470800-42471000	Enhancers	Aorta	Aorta
28	chr5:42470800-42471600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr5:42471000-42471400	Enhancers	Ovary	ovary
30	chr5:42471000-42471800	Weak transcription	Aorta	Aorta

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