Variant report

Variant	nsv462130
Chromosome Location	chr5:44879577-44920711
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	chr5:44808741..44809414-chr5:44881160..44882057,2	Hela-S3	cervix:
2	chr5:44870877..44873742-chr5:44878688..44880563,2	K562	blood:

Variant related genes	Relation type
ENSG00000112996	chromatin interactions
ENSG00000251141	chromatin interactions

Extended variants
information (count: 843 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:843 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7705343	chr5:44879577-44879578	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561696622	chr5:44879585-44879586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575685103	chr5:44879586-44879587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377664476	chr5:44879736-44879737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191924851	chr5:44879764-44879765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533332023	chr5:44879787-44879788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550177097	chr5:44879815-44879816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563707093	chr5:44879872-44879873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145530877	chr5:44879877-44879878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570375050	chr5:44879880-44879881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529443724	chr5:44879906-44879907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184839748	chr5:44879910-44879911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148423260	chr5:44879921-44879922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78416112	chr5:44879933-44879934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547338446	chr5:44879954-44879955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570743929	chr5:44879960-44879961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542781434	chr5:44879973-44879974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529169777	chr5:44880033-44880034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555727681	chr5:44880098-44880099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565403656	chr5:44880115-44880116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144121421	chr5:44880192-44880193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111996368	chr5:44880217-44880218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115558494	chr5:44880228-44880229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10040488	chr5:44880288-44880289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs189303178	chr5:44880324-44880325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578246106	chr5:44880327-44880328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75093513	chr5:44880343-44880344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146483054	chr5:44880371-44880372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529306407	chr5:44880372-44880373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370556930	chr5:44880380-44880381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180971270	chr5:44880393-44880394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140963643	chr5:44880454-44880455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527463608	chr5:44880456-44880457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74463934	chr5:44880549-44880550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570350962	chr5:44880588-44880589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533049254	chr5:44880675-44880676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550768863	chr5:44880683-44880684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551631408	chr5:44880689-44880690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77173559	chr5:44880709-44880710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569264181	chr5:44880751-44880752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112058346	chr5:44880759-44880760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78965723	chr5:44880766-44880767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373977532	chr5:44880781-44880782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144883151	chr5:44880870-44880871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534453027	chr5:44880925-44880926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558321126	chr5:44880927-44880928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537111455	chr5:44880933-44880934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544081308	chr5:44880971-44880972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111488197	chr5:44880985-44880986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368125131	chr5:44881021-44881022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
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
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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44876600-44880400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:44876600-44881400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:44877000-44886200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:44878800-44880000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:44878800-44880000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr5:44880400-44880600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:44880600-44881200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:44881000-44881600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:44881200-44881400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:44881200-44881600	Active TSS	A549	lung
11	chr5:44881400-44881800	Enhancers	Liver	Liver
12	chr5:44881400-44881800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:44881600-44882000	Enhancers	A549	lung
14	chr5:44881800-44882000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr5:44884200-44884600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:44885000-44885800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:44885600-44886400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr5:44885600-44886400	Enhancers	NHEK	skin
19	chr5:44885600-44886800	Enhancers	GM12878-XiMat	blood
20	chr5:44886000-44886400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:44886000-44886400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:44886200-44886400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:44897600-44898200	Enhancers	GM12878-XiMat	blood
24	chr5:44898200-44900200	Weak transcription	GM12878-XiMat	blood
25	chr5:44898800-44899200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:44900200-44901200	Enhancers	GM12878-XiMat	blood
27	chr5:44903800-44906400	Weak transcription	Pancreas	Pancrea
28	chr5:44909000-44909400	Enhancers	Fetal Heart	heart
29	chr5:44909400-44911000	Weak transcription	Fetal Heart	heart
30	chr5:44911000-44912200	Enhancers	Fetal Heart	heart
31	chr5:44911200-44911400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:44911200-44911800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:44911200-44911800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr5:44911200-44912200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:44911400-44911800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr5:44911400-44912200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:44911400-44912200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:44911600-44912200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:44911800-44913200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:44912000-44912200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr5:44912200-44913800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:44912200-44915800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr5:44913800-44914400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr5:44914000-44914200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr5:44914400-44915800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:44915800-44916200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr5:44915800-44916200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr5:44919400-44920600	Enhancers	Hela-S3	cervix

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