Variant report

Variant	nsv597308
Chromosome Location	chr5:16655375-16658524
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	chr5:16657520..16659492-chr5:16660163..16661678,2	MCF-7	breast:

Extended variants
information (count: 122 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2247349	chr5:16655375-16655376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138888261	chr5:16655390-16655391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189397383	chr5:16655411-16655412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370432771	chr5:16655430-16655431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563856365	chr5:16655471-16655472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531170150	chr5:16655480-16655481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2561234	chr5:16655525-16655526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs569207708	chr5:16655596-16655597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2561861	chr5:16655629-16655630	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs532636415	chr5:16655631-16655632	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs386685844	chr5:16655642-16655643	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs2592042	chr5:16655643-16655644	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs73055712	chr5:16655683-16655684	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78005563	chr5:16655777-16655778	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs570965462	chr5:16655818-16655819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538195445	chr5:16655988-16655989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556640630	chr5:16655999-16656000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574770042	chr5:16656017-16656018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201213272	chr5:16656106-16656107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542137516	chr5:16656134-16656135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113505030	chr5:16656171-16656172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs252372	chr5:16656172-16656173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs545690360	chr5:16656199-16656200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146312824	chr5:16656246-16656247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs153206	chr5:16656258-16656259	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs149336769	chr5:16656291-16656292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543001572	chr5:16656294-16656295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371805	chr5:16656313-16656314	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs387793	chr5:16656337-16656338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs544244360	chr5:16656342-16656343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs36021821	chr5:16656356-16656357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs434347	chr5:16656381-16656382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs373575	chr5:16656386-16656387	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114136291	chr5:16656400-16656401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570954830	chr5:16656424-16656425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538377232	chr5:16656437-16656438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186173327	chr5:16656438-16656439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145250358	chr5:16656484-16656485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs685875	chr5:16656506-16656507	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs191165329	chr5:16656514-16656515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112140246	chr5:16656529-16656530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2434517	chr5:16656536-16656537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs374274788	chr5:16656542-16656543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180829278	chr5:16656551-16656552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376160765	chr5:16656568-16656569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs588367	chr5:16656570-16656571	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558575959	chr5:16656574-16656575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536966901	chr5:16656604-16656605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555255063	chr5:16656610-16656611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186756475	chr5:16656645-16656646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16650000-16664600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:16652600-16663000	Weak transcription	Primary T cells from cord blood	blood
3	chr5:16653800-16663600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:16655200-16655400	Weak transcription	Hela-S3	cervix
5	chr5:16655600-16655800	Enhancers	Esophagus	oesophagus
6	chr5:16655600-16655800	ZNF genes & repeats	Pancreas	Pancrea
7	chr5:16655600-16655800	Bivalent Enhancer	NHDF-Ad	bronchial
8	chr5:16655800-16664000	Weak transcription	Pancreas	Pancrea
9	chr5:16655800-16670600	Weak transcription	Esophagus	oesophagus
10	chr5:16656000-16657200	Weak transcription	NHDF-Ad	bronchial
11	chr5:16656200-16656400	Weak transcription	Hela-S3	cervix
12	chr5:16656200-16657000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:16656400-16656800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:16656400-16657000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr5:16656400-16657200	Enhancers	HMEC	breast
16	chr5:16656400-16657800	Enhancers	Adipose Nuclei	Adipose
17	chr5:16656600-16657200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:16656600-16657200	Enhancers	Hela-S3	cervix
19	chr5:16656600-16658000	Enhancers	NHEK	skin
20	chr5:16656800-16657000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:16656800-16657000	Enhancers	Fetal Brain Female	brain
22	chr5:16656800-16657000	Enhancers	Osteobl	bone
23	chr5:16656800-16657200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:16656800-16657200	Enhancers	Placenta	Placenta
25	chr5:16656800-16657400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:16657000-16657200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:16657000-16657600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:16657000-16658200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:16657000-16664000	Weak transcription	Fetal Brain Female	brain
30	chr5:16657000-16665600	Weak transcription	Osteobl	bone
31	chr5:16657000-16668000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr5:16657200-16657400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:16657200-16657400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:16657200-16657400	Enhancers	NHDF-Ad	bronchial
35	chr5:16657200-16660400	Weak transcription	Placenta	Placenta
36	chr5:16657200-16662800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:16657200-16663800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:16657200-16663800	Weak transcription	HMEC	breast
39	chr5:16657400-16658400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:16657400-16663200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:16657400-16664000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:16657400-16665600	Weak transcription	NHDF-Ad	bronchial
43	chr5:16657600-16658800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:16657800-16666600	Weak transcription	Adipose Nuclei	Adipose
45	chr5:16658000-16663800	Weak transcription	NHEK	skin
46	chr5:16658200-16670400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:16658400-16663600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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