Variant report

Variant	nsv830395
Chromosome Location	chr5:90955521-91135272
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:91056474..91059248-chr5:91069526..91072280,3	MCF-7	breast:
2	chr19:9694285..9695000-chr5:90964439..90965276,2	MCF-7	breast:
3	chr5:90958534..90961160-chr5:90968318..90970747,2	MCF-7	breast:
4	chr5:91100711..91102288-chr5:91114486..91116676,2	MCF-7	breast:
5	chr5:91039027..91041123-chr5:91048755..91051046,2	MCF-7	breast:
6	chr5:90958534..90961160-chr5:90968318..90970747,2	MCF-7	breast:
7	chr5:91056474..91059248-chr5:91069526..91072280,3	MCF-7	breast:
8	chr5:91100711..91102288-chr5:91114486..91116676,2	MCF-7	breast:
9	chr5:91039027..91041123-chr5:91048755..91051046,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARRDC3-8	chr5:90964549-90964768	uc_168_-
2	lnc-GPR98-13	chr5:90964549-90964768	uc_168_+

No data

Extended variants
information (count: 3788 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:3788 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182654995	chr5:90959018-90959019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564449720	chr5:90959052-90959053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533357550	chr5:90959056-90959057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116249053	chr5:90959085-90959086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186957781	chr5:90959086-90959087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140144194	chr5:90959105-90959106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150351893	chr5:90959126-90959127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567931342	chr5:90959141-90959142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11957008	chr5:90959195-90959196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141134845	chr5:90959201-90959202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570502273	chr5:90959224-90959225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144911625	chr5:90959265-90959266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539412128	chr5:90959274-90959275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537255819	chr5:90959284-90959285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556853356	chr5:90959297-90959298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191030644	chr5:90959334-90959335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573452840	chr5:90959346-90959347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536168390	chr5:90959349-90959350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138750717	chr5:90959352-90959353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116933847	chr5:90959396-90959397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544865120	chr5:90959569-90959570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2939242	chr5:90959587-90959588	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs578040891	chr5:90959600-90959601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141989352	chr5:90959620-90959621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183509241	chr5:90959625-90959626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528336505	chr5:90959734-90959735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548066412	chr5:90959756-90959757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561676067	chr5:90959758-90959759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530618755	chr5:90959844-90959845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550545074	chr5:90959854-90959855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570490916	chr5:90959892-90959893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539179319	chr5:90959919-90959920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143631063	chr5:90960067-90960068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546538768	chr5:90960128-90960129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566326941	chr5:90960171-90960172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535468758	chr5:90960198-90960199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556091987	chr5:90960259-90960260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576046255	chr5:90960291-90960292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538401582	chr5:90960304-90960305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187459734	chr5:90960314-90960315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578024945	chr5:90960316-90960317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540387108	chr5:90960440-90960441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193036278	chr5:90960449-90960450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10073523	chr5:90960452-90960453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs188074423	chr5:90960538-90960539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542661802	chr5:90960544-90960545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7721194	chr5:90960559-90960560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111656894	chr5:90960602-90960603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192728952	chr5:90960623-90960624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560497170	chr5:90960695-90960696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90959000-90960200	Enhancers	Fetal Heart	heart
2	chr5:90960200-90963800	Weak transcription	Fetal Heart	heart
3	chr5:90963800-90964000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:90963800-90964000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:90963800-90964000	Enhancers	Fetal Heart	heart
6	chr5:90963800-90964200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:90963800-90964200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:90963800-90964200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:90963800-90964400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:90964000-90964400	Weak transcription	Fetal Heart	heart
11	chr5:90964000-90965200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:90964000-90966400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:90964200-90964400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:90964200-90966000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:90964400-90966000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:90964400-90968800	Enhancers	Fetal Heart	heart
17	chr5:90964800-90967200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:90965200-90965400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:90965400-90965800	Enhancers	Fetal Brain Male	brain
20	chr5:90965400-90966200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:90965800-90966200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:90965800-90966200	Weak transcription	Fetal Brain Male	brain
23	chr5:90965800-90967000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:90966000-90966800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:90966000-90966800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:90966000-90966800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:90966000-90966800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:90966000-90966800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:90966000-90967400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:90966200-90966800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:90966200-90966800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:90966200-90967000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:90966200-90967200	Enhancers	Fetal Brain Male	brain
34	chr5:90966400-90966800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr5:90966400-90966800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr5:90966400-90966800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr5:90966400-90966800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr5:90966800-90967400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:90967200-90968000	Weak transcription	Fetal Brain Male	brain
40	chr5:90968000-90968200	Enhancers	Fetal Brain Male	brain
41	chr5:90975800-90976200	Enhancers	Fetal Heart	heart
42	chr5:90976000-90976400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:90976200-90979000	Weak transcription	Fetal Heart	heart
44	chr5:90976400-90979200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:90978600-90979000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:90979000-90980200	Enhancers	Fetal Heart	heart
47	chr5:90979200-90979800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:90982200-90983000	Enhancers	Fetal Brain Male	brain
49	chr5:90986400-90987400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:90987400-90987600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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