Variant report

Variant	nsv964781
Chromosome Location	chr5:90249699-90256976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90242754..90246158-chr5:90247864..90250143,3	K562	blood:
2	chr5:90239303..90242044-chr5:90248874..90251643,2	K562	blood:
3	chr5:90252833..90255635-chr5:90676307..90679177,3	MCF-7	breast:
4	chr5:90253070..90254596-chr5:90675718..90677792,2	K562	blood:
5	chr5:90249044..90251772-chr5:90253923..90256613,2	K562	blood:
6	chr5:90249044..90251772-chr5:90253923..90256613,2	K562	blood:

Variant related genes	Relation type
ENSG00000113369	chromatin interactions

Extended variants
information (count: 310 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190152499	chr5:90249706-90249707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146543328	chr5:90249761-90249762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181189252	chr5:90249799-90249800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549825437	chr5:90249800-90249801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141304612	chr5:90249815-90249816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201250835	chr5:90249824-90249825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34260251	chr5:90249838-90249839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539939348	chr5:90249847-90249848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185487852	chr5:90249896-90249897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10213801	chr5:90249900-90249901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542856042	chr5:90249915-90249916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78406523	chr5:90249935-90249936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535238918	chr5:90249954-90249955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373511818	chr5:90249986-90249987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571670249	chr5:90249987-90249988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114528775	chr5:90250031-90250032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549090022	chr5:90250048-90250049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545316630	chr5:90250090-90250091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115077863	chr5:90250098-90250099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs16869260	chr5:90250126-90250127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs115695173	chr5:90250147-90250148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566402184	chr5:90250197-90250198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567787268	chr5:90250204-90250205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530144226	chr5:90250214-90250215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376915901	chr5:90250309-90250310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565006843	chr5:90250399-90250400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549150341	chr5:90250407-90250408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535331940	chr5:90250443-90250444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370294976	chr5:90250454-90250455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538100455	chr5:90250478-90250479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375205100	chr5:90250516-90250517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74726976	chr5:90250534-90250535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571835257	chr5:90250590-90250591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6875416	chr5:90250631-90250632	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs145038361	chr5:90250667-90250668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187994376	chr5:90250700-90250701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546974190	chr5:90250736-90250737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77757834	chr5:90250789-90250790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75268022	chr5:90250800-90250801	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs80121493	chr5:90250803-90250804	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs367661430	chr5:90250815-90250816	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs576262506	chr5:90250816-90250817	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs180896532	chr5:90250819-90250820	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs79225051	chr5:90250833-90250834	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs527675282	chr5:90250838-90250839	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs557167958	chr5:90250846-90250847	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs187067199	chr5:90250857-90250858	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs368397612	chr5:90250880-90250881	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs548022771	chr5:90250894-90250895	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs561126594	chr5:90250912-90250913	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90230400-90265200	Weak transcription	K562	blood
2	chr5:90231600-90250800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:90236800-90263200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:90242600-90261000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:90247000-90250600	Weak transcription	HepG2	liver
6	chr5:90250600-90251200	Enhancers	HepG2	liver
7	chr5:90250600-90253200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:90250800-90251000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
9	chr5:90250800-90251000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
10	chr5:90250800-90251000	Enhancers	NH-A	brain
11	chr5:90250800-90253200	Enhancers	Colon Smooth Muscle	Colon
12	chr5:90251000-90251400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:90251000-90252200	Weak transcription	A549	lung
14	chr5:90251200-90252200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:90251200-90252200	Weak transcription	HepG2	liver
16	chr5:90251200-90252400	Weak transcription	NH-A	brain
17	chr5:90251200-90252600	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:90252000-90253800	Enhancers	HUVEC	blood vessel
19	chr5:90252200-90252400	Enhancers	HepG2	liver
20	chr5:90252200-90252800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:90252200-90253000	Enhancers	A549	lung
22	chr5:90252400-90252800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:90252400-90252800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:90252400-90252800	Enhancers	NH-A	brain
25	chr5:90252400-90252800	Enhancers	NHEK	skin
26	chr5:90252400-90253000	Enhancers	HSMM	muscle
27	chr5:90252600-90253000	Enhancers	Brain Germinal Matrix	brain
28	chr5:90252600-90253000	Enhancers	Fetal Brain Female	brain
29	chr5:90252600-90253000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr5:90252600-90253000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr5:90252800-90253200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:90253000-90265200	Weak transcription	Fetal Brain Female	brain
33	chr5:90253200-90258000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:90253800-90258000	Weak transcription	HUVEC	blood vessel

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