Variant report

Variant	nsv436482
Chromosome Location	chr5:16635711-16655705
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	chr5:16464742..16466448-chr5:16638890..16641335,2	MCF-7	breast:
2	chr5:16551810..16554386-chr5:16638970..16640642,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173545	chromatin interactions

Extended variants
information (count: 600 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:600 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547540584	chr5:16638895-16638896	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558382574	chr5:16638897-16638898	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186192911	chr5:16638898-16638899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537505420	chr5:16638980-16638981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs73053772	chr5:16638990-16638991	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189873793	chr5:16638991-16638992	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142818514	chr5:16639003-16639004	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146618403	chr5:16639018-16639019	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182188242	chr5:16639055-16639056	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564730003	chr5:16639059-16639060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577855992	chr5:16639065-16639066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559720987	chr5:16639093-16639094	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78696132	chr5:16639100-16639101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376355267	chr5:16639131-16639132	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575112996	chr5:16639144-16639145	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542287362	chr5:16639229-16639230	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs560799885	chr5:16639245-16639246	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs62371316	chr5:16639250-16639251	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs372827133	chr5:16639273-16639274	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs62371317	chr5:16639274-16639275	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138811947	chr5:16639282-16639283	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148919332	chr5:16639315-16639316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs569658449	chr5:16639325-16639326	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570231678	chr5:16639366-16639367	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577828422	chr5:16639381-16639382	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs62371318	chr5:16639382-16639383	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs187023692	chr5:16639474-16639475	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs535164741	chr5:16639499-16639500	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs553044097	chr5:16639503-16639504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192550129	chr5:16639514-16639515	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538510326	chr5:16639515-16639516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs73053774	chr5:16639520-16639521	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183728889	chr5:16639521-16639522	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542398025	chr5:16639531-16639532	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561178583	chr5:16639560-16639561	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs866884	chr5:16639603-16639604	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs188251227	chr5:16639632-16639633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs564687740	chr5:16639674-16639675	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs138915075	chr5:16639682-16639683	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550620023	chr5:16639695-16639696	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs142939404	chr5:16639735-16639736	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs74729225	chr5:16639762-16639763	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549306460	chr5:16639787-16639788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs450657	chr5:16639853-16639854	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534766741	chr5:16639855-16639856	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs138068891	chr5:16639863-16639864	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371243624	chr5:16639875-16639876	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571279892	chr5:16639885-16639886	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs73053775	chr5:16639903-16639904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556970679	chr5:16639907-16639908	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	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
Breast cancer	22522925	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16641600-16643400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:16642400-16643200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:16642400-16643400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:16642600-16643200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr5:16642600-16643400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:16642600-16643400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:16642800-16643200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:16642800-16643400	Enhancers	Brain Anterior Caudate	brain
9	chr5:16642800-16643400	Enhancers	Brain Cingulate Gyrus	brain
10	chr5:16642800-16643400	Enhancers	Brain Hippocampus Middle	brain
11	chr5:16642800-16643400	Enhancers	Brain Substantia Nigra	brain
12	chr5:16642800-16644800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:16643000-16643400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:16643000-16643400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:16643000-16643400	Enhancers	Brain Angular Gyrus	brain
16	chr5:16643200-16644000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:16644000-16644400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:16644000-16644800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr5:16644000-16645200	Enhancers	Primary T cells from cord blood	blood
20	chr5:16644000-16645200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr5:16644200-16644400	Active TSS	Primary T cells fromperipheralblood	blood
22	chr5:16644400-16644600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr5:16644400-16644600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:16644400-16644800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr5:16644400-16644800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:16644400-16645000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr5:16644400-16645000	Enhancers	Thymus	Thymus
28	chr5:16644600-16645000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr5:16644600-16645000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:16644600-16645200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr5:16649400-16650000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
32	chr5:16650000-16664600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:16652600-16663000	Weak transcription	Primary T cells from cord blood	blood
34	chr5:16653800-16663600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:16655000-16655200	Enhancers	Hela-S3	cervix
36	chr5:16655200-16655400	Weak transcription	Hela-S3	cervix
37	chr5:16655600-16655800	Enhancers	Esophagus	oesophagus
38	chr5:16655600-16655800	ZNF genes & repeats	Pancreas	Pancrea
39	chr5:16655600-16655800	Bivalent Enhancer	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links