Variant report

Variant	esv3468883
Chromosome Location	chr5:17463598-17471129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:
2	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:
3	chr5:17448288..17450803-chr5:17469886..17472287,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-11	chr5:17465001-17465207	l_2885_chr5:17456969-17494846_brain

Extended variants
information (count: 90 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541306329	chr5:17463609-17463610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530596314	chr5:17463635-17463636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375700638	chr5:17463670-17463671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397996905	chr5:17463676-17463677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144273366	chr5:17463698-17463699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113132585	chr5:17463726-17463727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570045719	chr5:17463791-17463792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186353803	chr5:17463806-17463807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147794371	chr5:17463816-17463817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549508989	chr5:17463827-17463828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190754723	chr5:17463835-17463836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141158163	chr5:17463841-17463842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542777988	chr5:17463852-17463853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372426980	chr5:17463859-17463860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180965301	chr5:17463861-17463862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548824754	chr5:17463879-17463880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571883212	chr5:17463948-17463949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537766335	chr5:17463957-17463958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555859708	chr5:17464019-17464020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146930571	chr5:17464023-17464024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2459792	chr5:17464034-17464035	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184987777	chr5:17464042-17464043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151127646	chr5:17464069-17464070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112913080	chr5:17464123-17464124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368191084	chr5:17464143-17464144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533042616	chr5:17464144-17464145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543721625	chr5:17464151-17464152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191603123	chr5:17464219-17464220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529429058	chr5:17464246-17464247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562048733	chr5:17464281-17464282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529348279	chr5:17464315-17464316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551341116	chr5:17464363-17464364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386685937	chr5:17464368-17464369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372194795	chr5:17464369-17464370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566527384	chr5:17464376-17464377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533894387	chr5:17465002-17465003	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs548535883	chr5:17465034-17465035	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs565691026	chr5:17465196-17465197	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs551167264	chr5:17465825-17465826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571355033	chr5:17465867-17465868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189731744	chr5:17465877-17465878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369194864	chr5:17465885-17465886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573886553	chr5:17465926-17465927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536512998	chr5:17465941-17465942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553342762	chr5:17465988-17465989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78118807	chr5:17466026-17466027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77964986	chr5:17466056-17466057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558764199	chr5:17466093-17466094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575658808	chr5:17466145-17466146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554976019	chr5:17466161-17466162	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	19287141	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17430800-17463800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:17462200-17464400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:17463800-17464200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:17463800-17464400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr5:17463800-17464400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:17463800-17464400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:17463800-17464400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:17464000-17464400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:17464000-17464400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:17464000-17464400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:17465800-17466600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:17469400-17470000	Enhancers	Rectal Mucosa Donor 31	rectum

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