Variant report

Variant	nsv598257
Chromosome Location	chr5:58905769-58946639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:58921699..58924088-chr5:58961415..58963109,2	MCF-7	breast:
2	chr5:58909037..58911630-chr5:58912245..58914996,2	K562	blood:
3	chr5:58938220..58940371-chr5:58941651..58943411,2	MCF-7	breast:
4	chr5:58915352..58918200-chr5:58918396..58920310,2	MCF-7	breast:
5	chr5:58909037..58911630-chr5:58912245..58914996,2	K562	blood:
6	chr5:58915352..58918200-chr5:58918396..58920310,2	MCF-7	breast:
7	chr5:58919593..58921213-chr5:58924380..58926616,2	MCF-7	breast:
8	chr5:58919593..58921213-chr5:58924380..58926616,2	MCF-7	breast:
9	chr5:58883648..58886059-chr5:58910060..58912120,2	MCF-7	breast:
10	chr5:58938220..58940371-chr5:58941651..58943411,2	MCF-7	breast:

No data

Extended variants
information (count: 1491 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1491 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17380508	chr5:58905769-58905770	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191218301	chr5:58905780-58905781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139211264	chr5:58905811-58905812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561039433	chr5:58905818-58905819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533567085	chr5:58905821-58905822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530035516	chr5:58905848-58905849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558497249	chr5:58905909-58905910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576739104	chr5:58905924-58905925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543692637	chr5:58905946-58905947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563568952	chr5:58905967-58905968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115355859	chr5:58905980-58905981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180853744	chr5:58905987-58905988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566192836	chr5:58905990-58905991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528548380	chr5:58906011-58906012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548390611	chr5:58906027-58906028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568274231	chr5:58906071-58906072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs295965	chr5:58906099-58906100	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570114535	chr5:58906239-58906240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550910384	chr5:58906263-58906264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574342763	chr5:58906267-58906268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7726755	chr5:58906318-58906319	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs143957414	chr5:58906330-58906331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186140068	chr5:58906338-58906339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572129397	chr5:58906350-58906351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534388971	chr5:58906352-58906353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377015432	chr5:58906358-58906359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555694215	chr5:58906364-58906365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76431461	chr5:58906395-58906396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541580019	chr5:58906422-58906423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192187150	chr5:58906435-58906436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563606107	chr5:58906474-58906475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577039672	chr5:58906489-58906490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574855226	chr5:58906497-58906498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546198400	chr5:58906510-58906511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184030033	chr5:58906516-58906517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528595478	chr5:58906524-58906525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572256367	chr5:58906534-58906535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374760203	chr5:58906552-58906553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs726652	chr5:58906567-58906568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548231317	chr5:58906574-58906575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187947388	chr5:58906579-58906580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531051629	chr5:58906580-58906581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs295966	chr5:58906591-58906592	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs571153451	chr5:58906607-58906608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539719011	chr5:58906615-58906616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190520003	chr5:58906636-58906637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565501318	chr5:58906640-58906641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375578864	chr5:58906691-58906692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115714298	chr5:58906749-58906750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34010896	chr5:58906787-58906788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
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
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
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58894800-58910800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:58894800-58910800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:58895800-58911200	Weak transcription	Hela-S3	cervix
4	chr5:58897600-58905800	Weak transcription	Stomach Mucosa	stomach
5	chr5:58897600-58915800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:58903600-58910000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:58903800-58905800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:58903800-58911200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:58903800-58911400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr5:58903800-58913400	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:58904000-58908000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:58904400-58906000	Enhancers	HSMM	muscle
13	chr5:58904400-58906200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:58904600-58906200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:58904800-58906000	Enhancers	Primary hematopoietic stem cells	blood
16	chr5:58904800-58910400	Weak transcription	A549	lung
17	chr5:58905000-58909800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:58905200-58910600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:58905200-58913200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:58905600-58905800	Enhancers	Primary B cells from peripheral blood	blood
21	chr5:58905600-58905800	Enhancers	Liver	Liver
22	chr5:58905600-58906000	Enhancers	Psoas Muscle	Psoas
23	chr5:58905600-58915800	Weak transcription	HSMMtube	muscle
24	chr5:58905800-58906600	Enhancers	Stomach Mucosa	stomach
25	chr5:58905800-58906800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr5:58906000-58907600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr5:58906000-58908800	Weak transcription	Psoas Muscle	Psoas
28	chr5:58906000-58910400	Weak transcription	HSMM	muscle
29	chr5:58906600-58911400	Weak transcription	Stomach Mucosa	stomach
30	chr5:58906800-58912800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr5:58907400-58908400	Enhancers	Primary B cells from cord blood	blood
32	chr5:58907600-58908000	Enhancers	Primary B cells from peripheral blood	blood
33	chr5:58908400-58915600	Weak transcription	Primary B cells from cord blood	blood
34	chr5:58908800-58909400	Enhancers	Psoas Muscle	Psoas
35	chr5:58909400-58913000	Weak transcription	Psoas Muscle	Psoas
36	chr5:58909800-58912600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr5:58910000-58911600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:58910000-58913000	Weak transcription	Fetal Intestine Small	intestine
39	chr5:58910400-58911800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:58910400-58912400	Enhancers	HSMM	muscle
41	chr5:58910400-58913600	Enhancers	A549	lung
42	chr5:58910600-58911600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:58910800-58911400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:58910800-58911600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:58910800-58911600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:58910800-58911800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:58910800-58911800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:58911200-58911600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:58911200-58911800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:58911200-58911800	Enhancers	HUES64 Cell Line	embryonic stem cell

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