Variant report

Variant	nsv880974
Chromosome Location	chr5:27308663-27357356
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:27307208..27308729-chr5:27311551..27314257,2	K562	blood:
2	chr5:27330938..27332743-chr5:27335192..27337537,2	MCF-7	breast:
3	chr5:27226976..27228846-chr5:27344849..27346481,2	K562	blood:
4	chr5:27307590..27311526-chr5:27313597..27315707,3	K562	blood:
5	chr5:27307208..27308729-chr5:27311551..27314257,2	K562	blood:
6	chr5:27307590..27311526-chr5:27313597..27315707,3	K562	blood:
7	chr5:27330938..27332743-chr5:27335192..27337537,2	MCF-7	breast:
8	chr5:27314869..27317667-chr5:27318478..27321360,2	K562	blood:
9	chr1:121484566..121485406-chr5:27325124..27325624,2	MCF-7	breast:
10	chr5:27219696..27221313-chr5:27313999..27316596,2	K562	blood:
11	chr5:27356861..27358465-chr5:27382622..27384445,2	K562	blood:
12	chr5:27314869..27317667-chr5:27318478..27321360,2	K562	blood:

No data

Extended variants
information (count: 1357 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1357 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13167049	chr5:27308663-27308664	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114797587	chr5:27308696-27308697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572676390	chr5:27308701-27308702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540679999	chr5:27308712-27308713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370497451	chr5:27308728-27308729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536586671	chr5:27308740-27308741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554548388	chr5:27308765-27308766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141526989	chr5:27308780-27308781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536244303	chr5:27308888-27308889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367587740	chr5:27308893-27308894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543454888	chr5:27308903-27308904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546726059	chr5:27308913-27308914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58172374	chr5:27308929-27308930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs559340537	chr5:27308971-27308972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577034696	chr5:27309004-27309005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117855343	chr5:27309007-27309008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56936537	chr5:27309053-27309054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529990894	chr5:27309063-27309064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185970656	chr5:27309064-27309065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150736142	chr5:27309111-27309112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573103836	chr5:27309148-27309149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192127707	chr5:27309185-27309186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549776285	chr5:27309187-27309188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571378014	chr5:27309189-27309190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181899895	chr5:27309284-27309285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547963124	chr5:27309326-27309327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186590615	chr5:27309374-27309375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190572038	chr5:27309386-27309387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200200713	chr5:27309432-27309433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386686556	chr5:27309434-27309435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139587916	chr5:27309486-27309487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183087512	chr5:27309487-27309488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62346558	chr5:27309503-27309504	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs35225587	chr5:27309510-27309511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576999033	chr5:27309536-27309537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375198249	chr5:27309547-27309548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561938970	chr5:27309594-27309595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188146073	chr5:27309605-27309606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530643801	chr5:27309615-27309616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568379858	chr5:27309633-27309634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35100688	chr5:27309634-27309635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397790026	chr5:27309648-27309649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78737965	chr5:27309649-27309650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369663004	chr5:27309651-27309652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553128738	chr5:27309698-27309699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182636657	chr5:27309734-27309735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145010859	chr5:27309744-27309745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187561766	chr5:27309747-27309748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530733129	chr5:27309790-27309791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76996089	chr5:27309796-27309797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	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	21364760	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27308000-27308800	Enhancers	NHEK	skin
2	chr5:27308400-27308800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:27308600-27311800	Weak transcription	HMEC	breast
4	chr5:27308800-27311200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:27308800-27311800	Weak transcription	NHEK	skin
6	chr5:27309400-27310000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:27309400-27313600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:27309600-27309800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr5:27309600-27310200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:27310000-27310200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:27310000-27310200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:27310000-27311200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:27310200-27310800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:27310200-27311200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:27310200-27313800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:27310800-27312800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:27311200-27311400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:27311200-27312000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:27311200-27312800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:27311200-27313200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:27311200-27317800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:27311400-27312400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:27311400-27313200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:27311600-27313400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:27311800-27312000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr5:27311800-27312200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:27311800-27312200	Enhancers	HMEC	breast
28	chr5:27311800-27312200	Enhancers	NHEK	skin
29	chr5:27311800-27313000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:27312000-27312400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:27312000-27315400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:27312200-27315200	Weak transcription	NHEK	skin
33	chr5:27312200-27315400	Weak transcription	HMEC	breast
34	chr5:27312200-27316000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:27312400-27312800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr5:27312400-27312800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:27312600-27312800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr5:27312600-27313000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr5:27312800-27315000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:27312800-27315200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr5:27312800-27315400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:27312800-27320600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr5:27313000-27316200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:27313200-27315200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:27313200-27315200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:27313400-27315600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr5:27313600-27315400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr5:27313800-27314200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr5:27314600-27314800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:27314800-27316000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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