Variant report

Variant	esv3405233
Chromosome Location	chr5:116878553-116883151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COMMD10-5	chr5:116881794-116881993	ENSG00000248663
2	lnc-COMMD10-5	chr5:116881794-116881891	NONHSAT103387

Extended variants
information (count: 80 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568696036	chr5:116878556-116878557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143242598	chr5:116878568-116878569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557560528	chr5:116878574-116878575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577499844	chr5:116878575-116878576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190444549	chr5:116878576-116878577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183020987	chr5:116878580-116878581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79573736	chr5:116878587-116878588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542170277	chr5:116878592-116878593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115557259	chr5:116881808-116881809	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs533683696	chr5:116881847-116881848	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs553808921	chr5:116881857-116881858	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs140490592	chr5:116881871-116881872	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs535805515	chr5:116881906-116881907	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs145909250	chr5:116881919-116881920	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs576302451	chr5:116881981-116881982	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs539238258	chr5:116882008-116882009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17142023	chr5:116882010-116882011	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572579688	chr5:116882034-116882035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78819823	chr5:116882037-116882038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141793412	chr5:116882052-116882053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376790893	chr5:116882067-116882068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72435631	chr5:116882097-116882098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs60246624	chr5:116882100-116882101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146641062	chr5:116882127-116882128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574893631	chr5:116882128-116882129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543789419	chr5:116882142-116882143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562790915	chr5:116882147-116882148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531599543	chr5:116882156-116882157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149208081	chr5:116882187-116882188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564959369	chr5:116882190-116882191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527478443	chr5:116882198-116882199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547186248	chr5:116882206-116882207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566976474	chr5:116882225-116882226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191950913	chr5:116882244-116882245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79217511	chr5:116882320-116882321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569297185	chr5:116882353-116882354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561252914	chr5:116882358-116882359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117063302	chr5:116882368-116882369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs966943	chr5:116882376-116882377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143343998	chr5:116882399-116882400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73262742	chr5:116882426-116882427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550297178	chr5:116882427-116882428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147370788	chr5:116882448-116882449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535177798	chr5:116882481-116882482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538757907	chr5:116882490-116882491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182809293	chr5:116882501-116882502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76204800	chr5:116882537-116882538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73262745	chr5:116882538-116882539	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186568385	chr5:116882576-116882577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563706971	chr5:116882609-116882610	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116875800-116878600	Weak transcription	Fetal Kidney	kidney
2	chr5:116881800-116883600	Enhancers	NHEK	skin
3	chr5:116882000-116883600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:116882200-116882800	Enhancers	HMEC	breast
5	chr5:116882200-116883800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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