Variant report

Variant	esv3342106
Chromosome Location	chr5:41411195-41413093
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	chr5:41404307..41406613-chr5:41408825..41411220,2	MCF-7	breast:

Extended variants
information (count: 81 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs318032	chr5:41411218-41411219	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184243541	chr5:41411236-41411237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148829822	chr5:41411272-41411273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549009907	chr5:41411354-41411355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143460568	chr5:41411386-41411387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535017963	chr5:41411426-41411427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553266410	chr5:41411577-41411578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185872134	chr5:41411646-41411647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557462028	chr5:41411662-41411663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200744917	chr5:41411719-41411720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77615531	chr5:41411736-41411737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557489380	chr5:41411744-41411745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575286219	chr5:41411760-41411761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542743107	chr5:41411781-41411782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553197739	chr5:41411828-41411829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114627859	chr5:41411829-41411830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542099330	chr5:41411837-41411838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs202069883	chr5:41411846-41411847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs137995401	chr5:41411859-41411860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372866714	chr5:41411869-41411870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143812182	chr5:41411870-41411871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540202776	chr5:41411879-41411880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565057715	chr5:41411881-41411882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547624889	chr5:41411909-41411910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200728117	chr5:41411921-41411922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559845017	chr5:41411964-41411965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56365632	chr5:41411977-41411978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397936341	chr5:41411985-41411986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529966027	chr5:41411986-41411987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201061227	chr5:41411999-41412000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376889992	chr5:41412010-41412011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371545502	chr5:41412014-41412015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577024073	chr5:41412028-41412029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544115977	chr5:41412030-41412031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374885619	chr5:41412033-41412034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199691371	chr5:41412034-41412035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10473241	chr5:41412056-41412057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62360574	chr5:41412058-41412059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375642236	chr5:41412062-41412063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370657296	chr5:41412063-41412064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530935124	chr5:41412221-41412222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549048649	chr5:41412258-41412259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142106908	chr5:41412333-41412334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372947758	chr5:41412354-41412355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182545350	chr5:41412358-41412359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111263521	chr5:41412368-41412369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376037688	chr5:41412369-41412370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539310389	chr5:41412379-41412380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191964545	chr5:41412404-41412405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4557464	chr5:41412410-41412411	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
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
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41404000-41412000	Enhancers	Fetal Heart	heart
2	chr5:41409400-41412600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:41409600-41412600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:41409600-41412600	Weak transcription	Ovary	ovary
5	chr5:41409600-41412800	Weak transcription	Hela-S3	cervix
6	chr5:41409600-41413800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:41409600-41414400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:41409600-41414400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:41409600-41414400	Weak transcription	HMEC	breast
10	chr5:41409600-41414400	Weak transcription	NH-A	brain
11	chr5:41409600-41414600	Weak transcription	HSMM	muscle
12	chr5:41409800-41412600	Weak transcription	Fetal Intestine Large	intestine
13	chr5:41409800-41412600	Weak transcription	NHDF-Ad	bronchial
14	chr5:41409800-41412800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:41409800-41414400	Weak transcription	Osteobl	bone
16	chr5:41409800-41418400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:41410000-41412600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:41410000-41412800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:41410000-41413000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:41410000-41417800	Weak transcription	NHLF	lung
21	chr5:41410200-41411200	Enhancers	Left Ventricle	heart
22	chr5:41410200-41411200	Enhancers	Right Atrium	heart
23	chr5:41410800-41411200	Enhancers	Gastric	stomach
24	chr5:41410800-41411200	Enhancers	HepG2	liver
25	chr5:41411000-41411600	Enhancers	Brain Hippocampus Middle	brain
26	chr5:41411000-41411600	Enhancers	A549	lung
27	chr5:41411000-41413200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:41411200-41412600	Weak transcription	Right Atrium	heart
29	chr5:41411200-41416400	Weak transcription	Left Ventricle	heart
30	chr5:41411600-41412200	Weak transcription	A549	lung
31	chr5:41412000-41412400	Weak transcription	Fetal Heart	heart
32	chr5:41412200-41413000	Enhancers	A549	lung
33	chr5:41412400-41414000	Enhancers	Fetal Heart	heart
34	chr5:41412600-41412800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:41412600-41412800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:41412600-41412800	Enhancers	Gastric	stomach
37	chr5:41412600-41412800	Enhancers	Right Atrium	heart
38	chr5:41412600-41413400	Enhancers	Fetal Intestine Large	intestine
39	chr5:41412600-41413600	Enhancers	Ovary	ovary
40	chr5:41412600-41413800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr5:41412600-41414800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:41412600-41415600	Enhancers	NHDF-Ad	bronchial
43	chr5:41412800-41413400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:41412800-41413600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:41412800-41414000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:41412800-41416600	Weak transcription	Right Atrium	heart
47	chr5:41412800-41416800	Enhancers	Hela-S3	cervix
48	chr5:41412800-41418400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:41413000-41413200	Flanking Active TSS	A549	lung
50	chr5:41413000-41419000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links