Variant report

Variant	nsv981023
Chromosome Location	chr5:89534428-89550786
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:89548610..89551361-chr5:89563315..89565634,2	K562	blood:
2	chr5:89550009..89551577-chr5:89552431..89555407,2	K562	blood:
3	chr5:89540752..89543212-chr5:89703513..89705580,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CETN3-3	chr5:89540428-89540572	ENSG00000248555

Variant related genes	Relation type
ENSG00000153140	chromatin interactions

Extended variants
information (count: 626 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:626 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115150275	chr5:89534467-89534468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550555945	chr5:89534497-89534498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534362901	chr5:89534561-89534562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187329692	chr5:89534563-89534564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552530352	chr5:89534575-89534576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539719491	chr5:89534584-89534585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191788425	chr5:89534605-89534606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566694189	chr5:89534616-89534617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182936793	chr5:89534640-89534641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555876730	chr5:89534642-89534643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575326833	chr5:89534660-89534661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140560300	chr5:89534661-89534662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373323731	chr5:89534729-89534730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185356348	chr5:89534732-89534733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142900704	chr5:89534743-89534744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190121781	chr5:89534762-89534763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574202564	chr5:89534784-89534785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182076155	chr5:89534785-89534786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187825108	chr5:89534822-89534823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147448873	chr5:89534831-89534832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375486087	chr5:89534834-89534835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550619790	chr5:89534837-89534838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564039632	chr5:89534920-89534921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139897068	chr5:89534954-89534955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546901824	chr5:89535043-89535044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566651559	chr5:89535044-89535045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192507912	chr5:89535046-89535047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145430107	chr5:89535132-89535133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575042766	chr5:89535159-89535160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537919933	chr5:89535160-89535161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150650751	chr5:89535184-89535185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577646995	chr5:89535193-89535194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553632096	chr5:89535216-89535217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183968694	chr5:89535246-89535247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554493439	chr5:89535252-89535253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574239929	chr5:89535253-89535254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543211269	chr5:89535271-89535272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556769201	chr5:89535335-89535336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575429364	chr5:89535381-89535382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368808532	chr5:89535386-89535387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372210261	chr5:89535405-89535406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139872205	chr5:89535407-89535408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564148207	chr5:89535418-89535419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149837594	chr5:89535426-89535427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539838382	chr5:89535435-89535436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576862298	chr5:89535449-89535450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560407839	chr5:89535460-89535461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529126857	chr5:89535522-89535523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373101783	chr5:89535534-89535535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145815801	chr5:89535542-89535543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89529800-89560800	Weak transcription	Aorta	Aorta
2	chr5:89544600-89545000	Enhancers	Brain Germinal Matrix	brain
3	chr5:89549000-89549400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:89549400-89550200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr5:89549400-89550200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:89549400-89550400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:89549400-89550400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:89549400-89550600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:89549400-89550800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:89549400-89551000	Enhancers	H9 Cell Line	embryonic stem cell

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