Variant report

Variant	nsv830387
Chromosome Location	chr5:88547862-88682442
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:55)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:88572989..88574630-chr5:88659627..88662587,2	K562	blood:
2	chr5:88646426..88649088-chr5:88651981..88654104,2	K562	blood:
3	chr5:88649248..88651767-chr5:88653427..88656574,3	K562	blood:
4	chr5:88666552..88668277-chr5:88674891..88677318,2	K562	blood:
5	chr5:88623756..88626106-chr5:88629454..88631162,2	K562	blood:
6	chr5:88623756..88626305-chr5:88629341..88630954,2	K562	blood:
7	chr2:7777732..7778232-chr5:88559455..88560012,2	MCF-7	breast:
8	chr5:88579965..88582203-chr5:88585338..88587106,2	MCF-7	breast:
9	chr5:88558069..88559995-chr5:88568586..88571071,2	K562	blood:
10	chr5:88554213..88556237-chr5:88558445..88560470,2	K562	blood:
11	chr5:88574584..88577579-chr5:88578180..88581256,5	K562	blood:
12	chr5:88621073..88623386-chr5:88625459..88627245,2	K562	blood:
13	chr5:88580612..88583012-chr5:88586746..88589180,2	K562	blood:
14	chr5:88626274..88628932-chr5:88808961..88810687,2	K562	blood:
15	chr5:88629306..88633418-chr5:88634885..88638524,3	K562	blood:
16	chr5:88598835..88601364-chr5:88608346..88610918,2	K562	blood:
17	chr5:88585073..88587618-chr5:88605196..88607687,2	K562	blood:
18	chr5:88560471..88562685-chr5:88569721..88571968,2	MCF-7	breast:
19	chr5:88666552..88668277-chr5:88674891..88677318,2	K562	blood:
20	chr5:88678895..88681771-chr5:88690608..88693401,2	K562	blood:
21	chr5:88644999..88646677-chr5:88673942..88676636,2	K562	blood:
22	chr5:88621073..88623386-chr5:88625459..88627245,2	K562	blood:
23	chr5:88555863..88556919-chr5:89025643..89026536,6	MCF-7	breast:
24	chr5:88635504..88637317-chr5:88641976..88643496,2	K562	blood:
25	chr5:88623756..88626305-chr5:88629341..88630954,2	K562	blood:
26	chr5:88576659..88578719-chr5:88581884..88583555,2	K562	blood:
27	chr5:88574584..88577579-chr5:88578180..88581256,5	K562	blood:
28	chr5:88558069..88559995-chr5:88568586..88571071,2	K562	blood:
29	chr5:88623756..88626106-chr5:88629454..88631162,2	K562	blood:
30	chr5:88580612..88583012-chr5:88586746..88589180,2	K562	blood:
31	chr5:88585073..88587618-chr5:88605196..88607687,2	K562	blood:
32	chr5:88682123..88685115-chr5:88685986..88688180,3	K562	blood:
33	chr5:88591025..88593739-chr5:88595170..88597061,2	K562	blood:
34	chr5:88646426..88649088-chr5:88651981..88654104,2	K562	blood:
35	chr5:88644999..88646677-chr5:88673942..88676636,2	K562	blood:
36	chr5:88598835..88601364-chr5:88608346..88610918,2	K562	blood:
37	chr2:171622711..171623215-chr5:88672726..88673226,2	MCF-7	breast:
38	chr5:88554213..88556237-chr5:88558445..88560470,2	K562	blood:
39	chr5:88621886..88624066-chr5:88624722..88626959,2	K562	blood:
40	chr5:88665253..88669084-chr5:88671489..88674465,4	K562	blood:
41	chr5:88674571..88676699-chr5:88688418..88689981,2	K562	blood:
42	chr5:88560471..88562685-chr5:88569721..88571968,2	MCF-7	breast:
43	chr5:88665253..88669084-chr5:88671489..88674465,4	K562	blood:
44	chr5:88591025..88593739-chr5:88595170..88597061,2	K562	blood:
45	chr5:88621886..88624066-chr5:88624722..88626959,2	K562	blood:
46	chr5:88635504..88637317-chr5:88641976..88643496,2	K562	blood:
47	chr5:88576659..88578719-chr5:88581884..88583555,2	K562	blood:
48	chr5:88576757..88578687-chr5:88614848..88616717,2	K562	blood:
49	chr5:88629306..88633418-chr5:88634885..88638524,3	K562	blood:
50	chr5:88575426..88577692-chr5:89705611..89707343,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASA1-7	chr5:88600567-88600988	ENSG00000248309
2	lnc-RASA1-7	chr5:88673100-88673179	ENSG00000248309

No data

Variant related genes	Relation type
ENSG00000255647	chromatin interactions
TNKS2	miRNA target sites
LBR	miRNA target sites

Extended variants
information (count: 3445 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:3445 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538911017	chr5:88547868-88547869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564727365	chr5:88547932-88547933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371874890	chr5:88547949-88547950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138147030	chr5:88547950-88547951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527624459	chr5:88547992-88547993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547351448	chr5:88547993-88547994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181938437	chr5:88548110-88548111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116117539	chr5:88548274-88548275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550254532	chr5:88548309-88548310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185761221	chr5:88548324-88548325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554063285	chr5:88548435-88548436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190950753	chr5:88548529-88548530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6897928	chr5:88548582-88548583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs73772130	chr5:88548585-88548586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs137943814	chr5:88548604-88548605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183178818	chr5:88548615-88548616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372364687	chr5:88548663-88548664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186752293	chr5:88548792-88548793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201243053	chr5:88548912-88548913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142528398	chr5:88548913-88548914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556232658	chr5:88549073-88549074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575769798	chr5:88549084-88549085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544698251	chr5:88549220-88549221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572731200	chr5:88549221-88549222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs59115937	chr5:88549241-88549242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527465860	chr5:88549247-88549248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541341319	chr5:88549251-88549252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189698828	chr5:88549311-88549312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530118239	chr5:88549330-88549331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183161918	chr5:88549358-88549359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372987714	chr5:88549386-88549387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563670296	chr5:88549437-88549438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532682813	chr5:88549520-88549521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562271528	chr5:88549646-88549647	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs541203543	chr5:88549720-88549721	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs78976566	chr5:88549747-88549748	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs566291226	chr5:88549844-88549845	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534876892	chr5:88549850-88549851	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548866947	chr5:88549895-88549896	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568619286	chr5:88549939-88549940	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531407104	chr5:88549958-88549959	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543963018	chr5:88549964-88549965	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555929343	chr5:88550001-88550002	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10076524	chr5:88550030-88550031	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538379636	chr5:88550088-88550089	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558205383	chr5:88550102-88550103	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114156345	chr5:88550131-88550132	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540831510	chr5:88550318-88550319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561129707	chr5:88550328-88550329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369416699	chr5:88550335-88550336	Enhancers Weak transcription	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
small cell lung cancer	20016488	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
Colorectal cancer	16774939	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
Late-onset gain of skills and peculiar jugular pit	20729728	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:716 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88546200-88551400	Weak transcription	Psoas Muscle	Psoas
2	chr5:88547800-88548200	Enhancers	Fetal Brain Male	brain
3	chr5:88548200-88549000	Weak transcription	Fetal Brain Male	brain
4	chr5:88549000-88549200	Enhancers	Fetal Brain Male	brain
5	chr5:88549000-88549600	Enhancers	NHDF-Ad	bronchial
6	chr5:88549000-88550000	Enhancers	Fetal Brain Female	brain
7	chr5:88549200-88549600	Weak transcription	Fetal Brain Male	brain
8	chr5:88549200-88549800	Enhancers	Fetal Lung	lung
9	chr5:88549600-88549800	Flanking Active TSS	NHDF-Ad	bronchial
10	chr5:88549600-88550200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:88549600-88550200	Active TSS	Fetal Brain Male	brain
12	chr5:88549600-88550400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:88549800-88550600	Enhancers	NHDF-Ad	bronchial
14	chr5:88550000-88550200	Flanking Active TSS	Fetal Brain Female	brain
15	chr5:88550200-88550400	Enhancers	Fetal Brain Female	brain
16	chr5:88550200-88551800	Enhancers	Fetal Brain Male	brain
17	chr5:88550200-88552000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:88550400-88550600	Flanking Active TSS	Fetal Brain Female	brain
19	chr5:88550600-88551800	Enhancers	Fetal Brain Female	brain
20	chr5:88551000-88551800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:88551400-88551800	Enhancers	Psoas Muscle	Psoas
22	chr5:88551800-88554000	Weak transcription	Psoas Muscle	Psoas
23	chr5:88552000-88552200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:88552000-88553000	Enhancers	Aorta	Aorta
25	chr5:88552400-88552800	Enhancers	Primary B cells from peripheral blood	blood
26	chr5:88552800-88554800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr5:88553000-88555200	Weak transcription	Aorta	Aorta
28	chr5:88554000-88554200	Enhancers	Psoas Muscle	Psoas
29	chr5:88554800-88555200	Enhancers	Primary B cells from cord blood	blood
30	chr5:88554800-88557800	Enhancers	Primary B cells from peripheral blood	blood
31	chr5:88555200-88555400	Enhancers	Aorta	Aorta
32	chr5:88556600-88557400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:88557400-88562600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:88557800-88562400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr5:88560000-88561800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:88560400-88561000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr5:88560400-88562000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:88560400-88562000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:88560400-88562000	Enhancers	HMEC	breast
40	chr5:88560400-88562200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:88560800-88561800	Enhancers	NHEK	skin
42	chr5:88560800-88562000	Enhancers	NH-A	brain
43	chr5:88560800-88562200	Enhancers	HSMM	muscle
44	chr5:88561000-88561400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr5:88561000-88561800	Enhancers	NHLF	lung
46	chr5:88561000-88562000	Enhancers	NHDF-Ad	bronchial
47	chr5:88561000-88562000	Enhancers	Osteobl	bone
48	chr5:88561000-88562200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:88561000-88562200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr5:88561200-88562000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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