Variant report

Variant	esv1794754
Chromosome Location	chr5:16993278-17012775
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:17004434..17006256-chr5:17007845..17010404,2	K562	blood:
2	chr5:16995098..16996958-chr5:17000346..17002199,2	MCF-7	breast:
3	chr5:16883490..16885617-chr5:17011887..17014186,2	MCF-7	breast:
4	chr5:16999937..17003903-chr5:17005517..17010107,4	MCF-7	breast:
5	chr5:17005526..17008394-chr5:17011075..17012616,2	MCF-7	breast:
6	chr5:16995098..16996958-chr5:17000346..17002199,2	MCF-7	breast:
7	chr5:16999937..17003903-chr5:17005517..17010107,4	MCF-7	breast:
8	chr5:16935331..16937898-chr5:17010889..17014144,4	MCF-7	breast:
9	chr5:17004434..17006256-chr5:17007845..17010404,2	K562	blood:
10	chr5:17005526..17008394-chr5:17011075..17012616,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145555	chromatin interactions

Extended variants
information (count: 892 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:892 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11749259	chr5:16993278-16993279	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568200404	chr5:16993332-16993333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529004238	chr5:16993343-16993344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77392782	chr5:16993378-16993379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540838084	chr5:16993387-16993388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181827828	chr5:16993395-16993396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557773232	chr5:16993426-16993427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369024825	chr5:16993430-16993431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185179588	chr5:16993436-16993437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150748665	chr5:16993452-16993453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375527502	chr5:16993454-16993455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538529808	chr5:16993462-16993463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556486186	chr5:16993470-16993471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574935845	chr5:16993493-16993494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549292296	chr5:16993548-16993549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370119350	chr5:16993595-16993596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139377949	chr5:16993596-16993597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529820893	chr5:16993613-16993614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541591334	chr5:16993671-16993672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545832381	chr5:16993689-16993690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11133868	chr5:16993716-16993717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs79039677	chr5:16993725-16993726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543658790	chr5:16993766-16993767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561746376	chr5:16993778-16993779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79912966	chr5:16993792-16993793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552197086	chr5:16993802-16993803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547591511	chr5:16993813-16993814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565816061	chr5:16993820-16993821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190866658	chr5:16993867-16993868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2018015	chr5:16993868-16993869	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569590619	chr5:16993895-16993896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538164889	chr5:16993898-16993899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2018009	chr5:16993901-16993902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1806622	chr5:16993951-16993952	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535682604	chr5:16993968-16993969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553935186	chr5:16993993-16993994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572251575	chr5:16993998-16993999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182667536	chr5:16994026-16994027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188021522	chr5:16994069-16994070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576348998	chr5:16994121-16994122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199574037	chr5:16994124-16994125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10632322	chr5:16994129-16994130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373657644	chr5:16994143-16994144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs70943828	chr5:16994144-16994145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369816652	chr5:16994147-16994148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562042001	chr5:16994155-16994156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566114322	chr5:16994157-16994158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573966672	chr5:16994186-16994187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541269909	chr5:16994273-16994274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558331469	chr5:16994298-16994299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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:262 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16981600-16994200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:16988200-16994600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:16990800-16994200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:16991200-16993600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:16991600-16993600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:16992000-16995200	Enhancers	HUVEC	blood vessel
7	chr5:16992600-16994200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:16992600-16994600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:16992600-16994600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:16992600-16994600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:16992800-16993400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:16992800-16993600	Enhancers	NH-A	brain
13	chr5:16992800-16994200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:16992800-16994600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:16992800-16994600	Weak transcription	A549	lung
16	chr5:16992800-16994600	Weak transcription	HSMMtube	muscle
17	chr5:16992800-16994600	Weak transcription	NHDF-Ad	bronchial
18	chr5:16992800-16995800	Enhancers	Osteobl	bone
19	chr5:16993000-16993800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:16993000-16994600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:16993000-16994600	Weak transcription	HMEC	breast
22	chr5:16993000-16994600	Weak transcription	HSMM	muscle
23	chr5:16993400-16994400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:16993600-16994000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:16993600-16994600	Weak transcription	NH-A	brain
26	chr5:16994000-16996000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:16994200-16995000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:16994200-16995800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:16994200-16996000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:16994200-16996000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:16994200-16996000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:16994200-16996600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:16994400-16995000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:16994400-16995800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:16994400-16996000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:16994400-16996000	Enhancers	Fetal Muscle Leg	muscle
37	chr5:16994600-16994800	Enhancers	Brain Cingulate Gyrus	brain
38	chr5:16994600-16995000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr5:16994600-16995200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr5:16994600-16995200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:16994600-16995200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr5:16994600-16995200	Enhancers	NHLF	lung
43	chr5:16994600-16995400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr5:16994600-16995400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:16994600-16995400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr5:16994600-16995600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:16994600-16995600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:16994600-16995600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr5:16994600-16995600	Enhancers	HMEC	breast
50	chr5:16994600-16995600	Enhancers	NHDF-Ad	bronchial

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