Variant report

Variant	nsv969955
Chromosome Location	chr5:44357198-44360877
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	chr5:44356260..44358499-chr5:45223439..45226183,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11307970	chr5:44357221-44357222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550299896	chr5:44357222-44357223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs397997626	chr5:44357230-44357231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116672054	chr5:44357250-44357251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111348294	chr5:44357251-44357252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12656819	chr5:44357291-44357292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs57614410	chr5:44357363-44357364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369624444	chr5:44357370-44357371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188429263	chr5:44357388-44357389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552762900	chr5:44357469-44357470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572672934	chr5:44357493-44357494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538749603	chr5:44357542-44357543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558968192	chr5:44357543-44357544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201792782	chr5:44357606-44357607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191402541	chr5:44357612-44357613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544642020	chr5:44357628-44357629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185079569	chr5:44357668-44357669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368642449	chr5:44357688-44357689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530907031	chr5:44357697-44357698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575245158	chr5:44357698-44357699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549583165	chr5:44357704-44357705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540895906	chr5:44357725-44357726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200246807	chr5:44357777-44357778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532708548	chr5:44357791-44357792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79970442	chr5:44357807-44357808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565034260	chr5:44357909-44357910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151052514	chr5:44357989-44357990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550582962	chr5:44358042-44358043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11951940	chr5:44358055-44358056	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs141046313	chr5:44358088-44358089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546441430	chr5:44358098-44358099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566337874	chr5:44358197-44358198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538866674	chr5:44358204-44358205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372661892	chr5:44358225-44358226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143749582	chr5:44358229-44358230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78203785	chr5:44358251-44358252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138977087	chr5:44358309-44358310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189394001	chr5:44358344-44358345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142232418	chr5:44358376-44358377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547341892	chr5:44358379-44358380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560106239	chr5:44358391-44358392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371689319	chr5:44358437-44358438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144621631	chr5:44358475-44358476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138539089	chr5:44358494-44358495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546426625	chr5:44358530-44358531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562921732	chr5:44358532-44358533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182014712	chr5:44358631-44358632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543941811	chr5:44358656-44358657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552055909	chr5:44358682-44358683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560553520	chr5:44358733-44358734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Breast cancer	21364760	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
Lung cancer	21569311	CNVD
Tetralogy of Fallot	22912587	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44355800-44359400	Enhancers	Fetal Stomach	stomach
2	chr5:44356000-44362800	Enhancers	Fetal Lung	lung
3	chr5:44356400-44357400	Enhancers	Colon Smooth Muscle	Colon
4	chr5:44356400-44361400	Weak transcription	Ovary	ovary
5	chr5:44356800-44361600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:44357400-44360400	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:44359400-44359800	Weak transcription	Fetal Stomach	stomach
8	chr5:44359800-44360000	Enhancers	Fetal Stomach	stomach
9	chr5:44360000-44361200	Weak transcription	Fetal Stomach	stomach
10	chr5:44360400-44360800	Enhancers	Colon Smooth Muscle	Colon
11	chr5:44360600-44362200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:44360800-44362000	Enhancers	Stomach Smooth Muscle	stomach
13	chr5:44360800-44378000	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links