Variant report

Variant	esv2763890
Chromosome Location	chr5:27521149-27544770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:27530537..27533471-chr5:27821180..27823240,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf17-14	chr5:27520790-27521692	ucscGeneNc_uc003jgv_1

Extended variants
information (count: 226 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138980266	chr5:27521168-27521169	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs187926291	chr5:27521187-27521188	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs546323639	chr5:27521209-27521210	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs561302980	chr5:27521248-27521249	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs528968600	chr5:27521263-27521264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs191542552	chr5:27521273-27521274	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs182571086	chr5:27521301-27521302	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs539285090	chr5:27521332-27521333	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs551539984	chr5:27521354-27521355	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs141263637	chr5:27521371-27521372	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs566693958	chr5:27521381-27521382	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs188038610	chr5:27521406-27521407	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs141339408	chr5:27521425-27521426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs574850692	chr5:27521446-27521447	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs150780712	chr5:27521480-27521481	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs139137161	chr5:27521484-27521485	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs555868838	chr5:27521485-27521486	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs111513908	chr5:27521488-27521489	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs77747459	chr5:27521566-27521567	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs149383713	chr5:27521571-27521572	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs113910567	chr5:27521588-27521589	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs141558932	chr5:27521600-27521601	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs202213278	chr5:27521602-27521603	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs138328219	chr5:27521615-27521616	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs564696472	chr5:27521632-27521633	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs112095705	chr5:27521649-27521650	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs2329623	chr5:27521650-27521651	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184915369	chr5:27521663-27521664	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs528832005	chr5:27521680-27521681	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs538351460	chr5:27523600-27523601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142448631	chr5:27523732-27523733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370445326	chr5:27523733-27523734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372992514	chr5:27523779-27523780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561084474	chr5:27523789-27523790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113048169	chr5:27523796-27523797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576278157	chr5:27523837-27523838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151307499	chr5:27523839-27523840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140535546	chr5:27523860-27523861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75115148	chr5:27523867-27523868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551799371	chr5:27523868-27523869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187431395	chr5:27523877-27523878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527791248	chr5:27523922-27523923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549036461	chr5:27523928-27523929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531456904	chr5:27523963-27523964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374919812	chr5:27523973-27523974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538466327	chr5:27523974-27523975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549562427	chr5:27530216-27530217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73073612	chr5:27530237-27530238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs532051518	chr5:27530238-27530239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550232906	chr5:27530252-27530253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27523600-27524000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:27523800-27524000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:27530200-27531800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:27531600-27532400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr5:27531800-27532400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:27531800-27532400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:27531800-27532400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:27532400-27533400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:27532400-27533600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:27533200-27533600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:27533400-27533600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:27533800-27534000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:27543800-27544000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:27544000-27551600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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