Variant report

Variant	esv1793716
Chromosome Location	chr5:16989318-17019351
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:17004434..17006256-chr5:17007845..17010404,2	K562	blood:
2	chr5:17017463..17019806-chr5:17023489..17025073,2	MCF-7	breast:
3	chr5:16935331..16937898-chr5:17010889..17014144,4	MCF-7	breast:
4	chr5:16999937..17003903-chr5:17005517..17010107,4	MCF-7	breast:
5	chr5:16883490..16885617-chr5:17011887..17014186,2	MCF-7	breast:
6	chr5:16995098..16996958-chr5:17000346..17002199,2	MCF-7	breast:
7	chr5:16995098..16996958-chr5:17000346..17002199,2	MCF-7	breast:
8	chr5:17004434..17006256-chr5:17007845..17010404,2	K562	blood:
9	chr5:16986508..16989410-chr5:17147317..17149449,2	MCF-7	breast:
10	chr5:16934373..16937606-chr5:17013930..17017066,4	MCF-7	breast:
11	chr5:17005526..17008394-chr5:17011075..17012616,2	MCF-7	breast:
12	chr5:17005526..17008394-chr5:17011075..17012616,2	MCF-7	breast:
13	chr5:16999937..17003903-chr5:17005517..17010107,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145555	chromatin interactions

Extended variants
information (count: 1445 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1445 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550313038	chr5:16989332-16989333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377598396	chr5:16989333-16989334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537016594	chr5:16989361-16989362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200403588	chr5:16989374-16989375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78338878	chr5:16989432-16989433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191332805	chr5:16989449-16989450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536138455	chr5:16989458-16989459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560548264	chr5:16989531-16989532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71598011	chr5:16989532-16989533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554075162	chr5:16989552-16989553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572265576	chr5:16989564-16989565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147563009	chr5:16989577-16989578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13159840	chr5:16989582-16989583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145757065	chr5:16989584-16989585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143273345	chr5:16989633-16989634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149423637	chr5:16989635-16989636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10075932	chr5:16989653-16989654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541275379	chr5:16989672-16989673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201616073	chr5:16989685-16989686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573496087	chr5:16989701-16989702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371049660	chr5:16989709-16989710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533128806	chr5:16989727-16989728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35923628	chr5:16989736-16989737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143773432	chr5:16989753-16989754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111338116	chr5:16989785-16989786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568731358	chr5:16989790-16989791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79598132	chr5:16989837-16989838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10076041	chr5:16989839-16989840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554010272	chr5:16989864-16989865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146107007	chr5:16989877-16989878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371549592	chr5:16989888-16989889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374710478	chr5:16989899-16989900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367945571	chr5:16989905-16989906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539670996	chr5:16989910-16989911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557912815	chr5:16989921-16989922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182063284	chr5:16989924-16989925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187021685	chr5:16989927-16989928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201715834	chr5:16989953-16989954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555482588	chr5:16989974-16989975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573939790	chr5:16990027-16990028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540986777	chr5:16990041-16990042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191658827	chr5:16990045-16990046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577982876	chr5:16990050-16990051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112899920	chr5:16990121-16990122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563464894	chr5:16990126-16990127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530567737	chr5:16990128-16990129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189919531	chr5:16990135-16990136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6888624	chr5:16990164-16990165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528060653	chr5:16990186-16990187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370294202	chr5:16990222-16990223	Weak transcription 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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD

Chromatin state (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16978600-16991400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:16981600-16994200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:16985800-16989600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:16986800-16990400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:16988200-16994600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:16989000-16990200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:16989200-16991800	Weak transcription	NH-A	brain
8	chr5:16989600-16991800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:16990200-16990800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:16990400-16990600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:16990400-16990800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:16990600-16992200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:16990800-16991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:16990800-16994200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:16991200-16993600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:16991400-16991600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:16991600-16992200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:16991600-16993600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:16991800-16992200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:16991800-16992200	Enhancers	Osteobl	bone
21	chr5:16991800-16992400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:16991800-16992400	Enhancers	NH-A	brain
23	chr5:16991800-16992600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:16991800-16992800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:16992000-16992400	Enhancers	NHDF-Ad	bronchial
26	chr5:16992000-16992600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:16992000-16992800	Enhancers	NHEK	skin
28	chr5:16992000-16993000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:16992000-16993000	Enhancers	HMEC	breast
30	chr5:16992000-16993000	Enhancers	HSMM	muscle
31	chr5:16992000-16995200	Enhancers	HUVEC	blood vessel
32	chr5:16992200-16992400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr5:16992200-16992400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:16992200-16992400	Enhancers	Hela-S3	cervix
35	chr5:16992200-16992400	Flanking Active TSS	Osteobl	bone
36	chr5:16992200-16992600	Enhancers	Primary T cells from cord blood	blood
37	chr5:16992200-16992600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:16992200-16992800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:16992200-16992800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr5:16992200-16992800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:16992200-16992800	Enhancers	A549	lung
42	chr5:16992200-16992800	Enhancers	HSMMtube	muscle
43	chr5:16992200-16993000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:16992400-16992600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:16992400-16992600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr5:16992400-16992600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr5:16992400-16992600	Enhancers	Osteobl	bone
48	chr5:16992400-16992800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:16992400-16992800	Flanking Active TSS	NH-A	brain
50	chr5:16992400-16992800	Flanking Active TSS	NHDF-Ad	bronchial

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