Variant report

Variant	nsv881387
Chromosome Location	chr5:27264941-27373862
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:27273803..27275976-chr5:27278009..27280020,2	K562	blood:
2	chr5:27314869..27317667-chr5:27318478..27321360,2	K562	blood:
3	chr5:27307208..27308729-chr5:27311551..27314257,2	K562	blood:
4	chr5:27356861..27358465-chr5:27382622..27384445,2	K562	blood:
5	chr5:27278603..27280851-chr5:27284025..27286164,2	K562	blood:
6	chr5:27314869..27317667-chr5:27318478..27321360,2	K562	blood:
7	chr5:27278603..27280851-chr5:27284025..27286164,2	K562	blood:
8	chr5:27307590..27311526-chr5:27313597..27315707,3	K562	blood:
9	chr5:27297322..27299274-chr5:27300451..27302741,2	K562	blood:
10	chr5:27330938..27332743-chr5:27335192..27337537,2	MCF-7	breast:
11	chr1:121484566..121485406-chr5:27325124..27325624,2	MCF-7	breast:
12	chr5:27367781..27370478-chr5:27378982..27381299,2	MCF-7	breast:
13	chr5:27219696..27221313-chr5:27313999..27316596,2	K562	blood:
14	chr5:27330938..27332743-chr5:27335192..27337537,2	MCF-7	breast:
15	chr5:27297322..27300266-chr5:27300451..27303567,3	K562	blood:
16	chr5:27297322..27299274-chr5:27300451..27302741,2	K562	blood:
17	chr5:27297322..27300266-chr5:27300451..27303567,3	K562	blood:
18	chr5:27307208..27308729-chr5:27311551..27314257,2	K562	blood:
19	chr5:27273803..27275976-chr5:27278009..27280020,2	K562	blood:
20	chr5:27217761..27220206-chr5:27285474..27288180,2	K562	blood:
21	chr5:27226976..27228846-chr5:27344849..27346481,2	K562	blood:
22	chr5:27261008..27263784-chr5:27271504..27273523,2	K562	blood:
23	chr5:27286321..27288328-chr5:27551307..27553852,2	MCF-7	breast:
24	chr5:27277652..27280851-chr5:27283046..27286164,3	K562	blood:
25	chr5:27277652..27280851-chr5:27283046..27286164,3	K562	blood:
26	chr5:27307590..27311526-chr5:27313597..27315707,3	K562	blood:

No data

Extended variants
information (count: 2562 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2562 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17509120	chr5:27264941-27264942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192255796	chr5:27264949-27264950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538713788	chr5:27264965-27264966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547890432	chr5:27264977-27264978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78587244	chr5:27264979-27264980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554947669	chr5:27265001-27265002	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs566104262	chr5:27265016-27265017	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs184541993	chr5:27265161-27265162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs114309422	chr5:27265178-27265179	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs150887272	chr5:27265179-27265180	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs562440830	chr5:27265209-27265210	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs558089029	chr5:27265225-27265226	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs576774847	chr5:27265228-27265229	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs540735783	chr5:27265255-27265256	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs75308598	chr5:27265259-27265260	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs116080315	chr5:27265262-27265263	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs551049101	chr5:27265268-27265269	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs189220506	chr5:27265300-27265301	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs139088442	chr5:27265304-27265305	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs73082143	chr5:27265313-27265314	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546125442	chr5:27265356-27265357	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs564910768	chr5:27265375-27265376	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs565252554	chr5:27265386-27265387	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs527959160	chr5:27265407-27265408	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs532553298	chr5:27265427-27265428	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs548086664	chr5:27265497-27265498	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs372965834	chr5:27265500-27265501	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs567991659	chr5:27265528-27265529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs192516963	chr5:27265534-27265535	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs530225879	chr5:27265613-27265614	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs536829108	chr5:27265614-27265615	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs368028533	chr5:27265622-27265623	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs548413523	chr5:27265674-27265675	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs569924442	chr5:27265685-27265686	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs1479628	chr5:27265720-27265721	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs558840228	chr5:27265746-27265747	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs74387863	chr5:27265750-27265751	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs6898433	chr5:27265751-27265752	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376846629	chr5:27265754-27265755	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs377717510	chr5:27265759-27265760	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs552790574	chr5:27265775-27265776	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs574518386	chr5:27265806-27265807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541958497	chr5:27265834-27265835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184205432	chr5:27265856-27265857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575534528	chr5:27265860-27265861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546082879	chr5:27265879-27265880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149917366	chr5:27265882-27265883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115954585	chr5:27265887-27265888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553043133	chr5:27265890-27265891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188913245	chr5:27265905-27265906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27264400-27267200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:27265000-27265600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
3	chr5:27265600-27265800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:27265600-27266400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:27265800-27266200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:27266200-27266400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:27266200-27266800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:27266200-27267400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:27266400-27266800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr5:27266400-27266800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:27266400-27266800	Enhancers	Fetal Lung	lung
12	chr5:27266400-27267600	Enhancers	Primary hematopoietic stem cells	blood
13	chr5:27266800-27267800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:27266800-27267800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:27267200-27268000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:27267800-27268800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:27268800-27269000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:27275600-27276200	Enhancers	Fetal Heart	heart
19	chr5:27284400-27284800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:27285800-27308400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:27287400-27287600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:27290200-27290800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:27290600-27290800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:27290800-27291000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:27291000-27291600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr5:27291200-27291600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:27291200-27292200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr5:27291400-27291600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:27291400-27291800	ZNF genes & repeats	Right Atrium	heart
30	chr5:27291600-27292400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:27294400-27295400	Enhancers	HepG2	liver
32	chr5:27307800-27308400	Enhancers	Osteobl	bone
33	chr5:27308000-27308600	Enhancers	NH-A	brain
34	chr5:27308000-27308800	Enhancers	NHEK	skin
35	chr5:27308200-27308600	Enhancers	HMEC	breast
36	chr5:27308400-27308800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:27308600-27311800	Weak transcription	HMEC	breast
38	chr5:27308800-27311200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:27308800-27311800	Weak transcription	NHEK	skin
40	chr5:27309400-27310000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:27309400-27313600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr5:27309600-27309800	Enhancers	H9 Cell Line	embryonic stem cell
43	chr5:27309600-27310200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr5:27310000-27310200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:27310000-27310200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr5:27310000-27311200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:27310200-27310800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:27310200-27311200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:27310200-27313800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:27310800-27312800	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links