Variant report

Variant	nsv597311
Chromosome Location	chr5:16980857-17012775
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:17004434..17006256-chr5:17007845..17010404,2	K562	blood:
2	chr5:16883490..16885617-chr5:17011887..17014186,2	MCF-7	breast:
3	chr5:17004434..17006256-chr5:17007845..17010404,2	K562	blood:
4	chr5:16935331..16937898-chr5:17010889..17014144,4	MCF-7	breast:
5	chr5:16986508..16989410-chr5:17147317..17149449,2	MCF-7	breast:
6	chr5:17005526..17008394-chr5:17011075..17012616,2	MCF-7	breast:
7	chr5:17005526..17008394-chr5:17011075..17012616,2	MCF-7	breast:
8	chr5:16999937..17003903-chr5:17005517..17010107,4	MCF-7	breast:
9	chr5:16999937..17003903-chr5:17005517..17010107,4	MCF-7	breast:
10	chr5:16995098..16996958-chr5:17000346..17002199,2	MCF-7	breast:
11	chr5:16995098..16996958-chr5:17000346..17002199,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145555	chromatin interactions

Extended variants
information (count: 1498 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1498 , 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	rs6885799	chr5:16980857-16980858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533846227	chr5:16980871-16980872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371612601	chr5:16980880-16980881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570315184	chr5:16980904-16980905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558773792	chr5:16980944-16980945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6885964	chr5:16980960-16980961	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs145590019	chr5:16980961-16980962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6886111	chr5:16981012-16981013	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570617504	chr5:16981039-16981040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577546551	chr5:16981047-16981048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147292769	chr5:16981048-16981049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146383229	chr5:16981060-16981061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369538969	chr5:16981062-16981063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199743298	chr5:16981067-16981068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386685888	chr5:16981068-16981069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541958962	chr5:16981071-16981072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13178356	chr5:16981083-16981084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117682123	chr5:16981125-16981126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187483844	chr5:16981136-16981137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6886590	chr5:16981139-16981140	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs375460704	chr5:16981200-16981201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535818460	chr5:16981205-16981206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6886318	chr5:16981230-16981231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35472975	chr5:16981231-16981232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569467876	chr5:16981252-16981253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375636793	chr5:16981254-16981255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6867617	chr5:16981256-16981257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs59906989	chr5:16981276-16981277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199674037	chr5:16981291-16981292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369204061	chr5:16981297-16981298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575484957	chr5:16981309-16981310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140836757	chr5:16981334-16981335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12517442	chr5:16981350-16981351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529408173	chr5:16981367-16981368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74673440	chr5:16981393-16981394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142306492	chr5:16981403-16981404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557938652	chr5:16981415-16981416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75523214	chr5:16981431-16981432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373368958	chr5:16981435-16981436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192620014	chr5:16981456-16981457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555981093	chr5:16981459-16981460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540303321	chr5:16981476-16981477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574246820	chr5:16981530-16981531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377616323	chr5:16981531-16981532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561745672	chr5:16981542-16981543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371025250	chr5:16981571-16981572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151250397	chr5:16981575-16981576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373669508	chr5:16981576-16981577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571970746	chr5:16981578-16981579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545814339	chr5:16981631-16981632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD

Chromatin state (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16971000-16983200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:16977000-16982000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:16977000-16983200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:16978600-16991400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:16980600-16983000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:16980800-16981000	Enhancers	A549	lung
7	chr5:16980800-16981600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:16980800-16981600	Enhancers	NH-A	brain
9	chr5:16980800-16982600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:16980800-16983200	Enhancers	HUVEC	blood vessel
11	chr5:16981000-16981200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr5:16981000-16981200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:16981000-16981600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:16981000-16983200	Weak transcription	A549	lung
15	chr5:16981200-16982600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:16981600-16983200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:16981600-16983200	Weak transcription	NH-A	brain
18	chr5:16981600-16994200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:16981800-16982000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr5:16981800-16983600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:16982000-16983000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:16982600-16983000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:16982600-16983000	Enhancers	Duodenum Mucosa	Duodenum
24	chr5:16982600-16983200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:16982600-16983400	Enhancers	Left Ventricle	heart
26	chr5:16982600-16983600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:16983000-16983200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:16983000-16983200	Enhancers	Osteobl	bone
29	chr5:16983000-16983400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:16983000-16983600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:16983000-16983600	Active TSS	HepG2	liver
32	chr5:16983000-16985800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:16983200-16983400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:16983200-16983400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:16983200-16983400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr5:16983200-16983600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr5:16983200-16983600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:16983200-16983600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:16983200-16983600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:16983200-16983600	Active TSS	Duodenum Mucosa	Duodenum
41	chr5:16983200-16983600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr5:16983200-16983600	Enhancers	Fetal Kidney	kidney
43	chr5:16983200-16983600	Enhancers	Ovary	ovary
44	chr5:16983200-16983600	Flanking Active TSS	A549	lung
45	chr5:16983200-16983600	Flanking Active TSS	HUVEC	blood vessel
46	chr5:16983200-16983600	Enhancers	NH-A	brain
47	chr5:16983200-16983600	Flanking Active TSS	Osteobl	bone
48	chr5:16983400-16985200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:16983400-16986200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr5:16983600-16983800	Enhancers	HepG2	liver

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