Variant report

Variant	nsv599488
Chromosome Location	chr5:116857366-116905052
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:2)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:116884300..116886423-chr5:116888475..116890420,2	K562	blood:
2	chr5:116884300..116886423-chr5:116888475..116890420,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COMMD10-12	chr5:116871207-116871314	l_3001_chr5:116779094-116842761_testes
2	lnc-COMMD10-5	chr5:116881794-116881993	ENSG00000248663
3	lnc-COMMD10-5	chr5:116891341-116891475	NONHSAT103387
4	lnc-COMMD10-12	chr5:116858885-116859204	l_3001_chr5:116779094-116842761_testes
5	lnc-COMMD10-5	chr5:116881794-116881891	NONHSAT103387

No data

Extended variants
information (count: 629 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:629 , 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	rs533413348	chr5:116858920-116858921	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs544782166	chr5:116858924-116858925	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs565872270	chr5:116858982-116858983	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs144334911	chr5:116858998-116858999	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs79808418	chr5:116859062-116859063	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs568202388	chr5:116859080-116859081	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs536837496	chr5:116859100-116859101	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs564147727	chr5:116859107-116859108	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs528517954	chr5:116859114-116859115	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs185502395	chr5:116859115-116859116	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs62378070	chr5:116859129-116859130	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545429352	chr5:116859133-116859134	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs191004600	chr5:116859139-116859140	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs573479779	chr5:116859187-116859188	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs13184437	chr5:116869001-116869002	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs561223781	chr5:116869002-116869003	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs530277251	chr5:116869005-116869006	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs150963879	chr5:116869018-116869019	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs549951988	chr5:116869028-116869029	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs199504260	chr5:116869038-116869039	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs570060634	chr5:116869053-116869054	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs532590155	chr5:116869071-116869072	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs552308291	chr5:116869072-116869073	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs265888	chr5:116869074-116869075	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184430096	chr5:116869092-116869093	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs564546957	chr5:116869113-116869114	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs532030642	chr5:116869117-116869118	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs144610173	chr5:116869118-116869119	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs567559565	chr5:116869124-116869125	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs536462055	chr5:116869151-116869152	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs4920971	chr5:116869159-116869160	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556278356	chr5:116869163-116869164	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs576079861	chr5:116869166-116869167	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs545054608	chr5:116869167-116869168	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs558355143	chr5:116869170-116869171	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs571737304	chr5:116869207-116869208	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs540620321	chr5:116869220-116869221	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs561286813	chr5:116869234-116869235	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs11953491	chr5:116869252-116869253	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543611766	chr5:116869254-116869255	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs187708634	chr5:116869260-116869261	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs527922365	chr5:116869263-116869264	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs549392584	chr5:116869264-116869265	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs145550015	chr5:116869287-116869288	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs559591675	chr5:116869291-116869292	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs265887	chr5:116869328-116869329	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs548564549	chr5:116869334-116869335	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs138052495	chr5:116869344-116869345	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs536524694	chr5:116869349-116869350	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs549727374	chr5:116869355-116869356	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116869000-116869400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr5:116873800-116874000	Enhancers	Fetal Kidney	kidney
3	chr5:116875800-116878600	Weak transcription	Fetal Kidney	kidney
4	chr5:116881800-116883600	Enhancers	NHEK	skin
5	chr5:116882000-116883600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:116882200-116882800	Enhancers	HMEC	breast
7	chr5:116882200-116883800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:116892600-116893000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:116894200-116896800	Enhancers	Liver	Liver
10	chr5:116894600-116895000	Enhancers	Fetal Intestine Small	intestine
11	chr5:116894600-116895200	Enhancers	Fetal Intestine Large	intestine
12	chr5:116895000-116896000	Weak transcription	Fetal Intestine Small	intestine
13	chr5:116896000-116896200	Enhancers	Fetal Intestine Small	intestine
14	chr5:116903400-116905400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:116903600-116905200	Enhancers	NHEK	skin
16	chr5:116903600-116905400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:116904400-116904800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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