Variant report

Variant	esv2752594
Chromosome Location	chr5:103961296-103973932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:103955211..103956753-chr5:103960969..103962805,2	MCF-7	breast:
2	chr5:103959799..103963456-chr5:103964708..103968737,3	MCF-7	breast:
3	chr5:103959799..103963456-chr5:103964708..103968737,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-5	chr5:103966237-103966357	ENSG00000251574
2	lnc-NUDT12-5	chr5:103966088-103966357	ENSG00000251574

Extended variants
information (count: 40 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569307468	chr5:103964894-103964895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542945107	chr5:103964935-103964936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557025551	chr5:103964977-103964978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs326246	chr5:103964988-103964989	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185141178	chr5:103965026-103965027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551776550	chr5:103965060-103965061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115083273	chr5:103965062-103965063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs326245	chr5:103965068-103965069	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190034120	chr5:103965186-103965187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542726118	chr5:103966125-103966126	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs145268226	chr5:103966146-103966147	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs117344219	chr5:103966152-103966153	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs559332853	chr5:103966163-103966164	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs191655422	chr5:103966173-103966174	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs544619971	chr5:103966177-103966178	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs147585933	chr5:103966203-103966204	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs73200566	chr5:103966205-103966206	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs326244	chr5:103966221-103966222	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs326243	chr5:103966248-103966249	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs142100517	chr5:103966274-103966275	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs183059881	chr5:103966296-103966297	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs571618626	chr5:103966340-103966341	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs35085811	chr5:103966343-103966344	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs568053056	chr5:103966347-103966348	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs576789032	chr5:103970612-103970613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73775469	chr5:103970619-103970620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs533428901	chr5:103970625-103970626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532395534	chr5:103970633-103970634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546023741	chr5:103970663-103970664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529326767	chr5:103970670-103970671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549165768	chr5:103970676-103970677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72780797	chr5:103970684-103970685	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139807735	chr5:103970690-103970691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547600671	chr5:103970720-103970721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570690541	chr5:103970732-103970733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539744257	chr5:103970752-103970753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145219025	chr5:103970796-103970797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs326240	chr5:103970812-103970813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs181753302	chr5:103970899-103970900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142091282	chr5:103970966-103970967	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103964800-103965200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:103970600-103971000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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