Variant report

Variant	esv1796588
Chromosome Location	chr5:17000364-17033610
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	chr5:16935331..16937898-chr5:17010889..17014144,4	MCF-7	breast:
2	chr5:16935759..16937605-chr5:17023658..17025231,2	MCF-7	breast:
3	chr5:17004434..17006256-chr5:17007845..17010404,2	K562	blood:
4	chr5:16999937..17003903-chr5:17005517..17010107,4	MCF-7	breast:
5	chr5:17017463..17019806-chr5:17023489..17025073,2	MCF-7	breast:
6	chr5:17017463..17019806-chr5:17023489..17025073,2	MCF-7	breast:
7	chr5:16934373..16937606-chr5:17013930..17017066,4	MCF-7	breast:
8	chr5:17005526..17008394-chr5:17011075..17012616,2	MCF-7	breast:
9	chr5:17005526..17008394-chr5:17011075..17012616,2	MCF-7	breast:
10	chr5:16883490..16885617-chr5:17011887..17014186,2	MCF-7	breast:
11	chr5:16995098..16996958-chr5:17000346..17002199,2	MCF-7	breast:
12	chr5:16999937..17003903-chr5:17005517..17010107,4	MCF-7	breast:
13	chr5:17004434..17006256-chr5:17007845..17010404,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145555	chromatin interactions

Extended variants
information (count: 1558 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1558 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4129967	chr5:17000364-17000365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs78316589	chr5:17000442-17000443	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs143757986	chr5:17000445-17000446	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs553143370	chr5:17000447-17000448	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs377369877	chr5:17000459-17000460	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs577731037	chr5:17000516-17000517	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs186917042	chr5:17000534-17000535	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs192065485	chr5:17000560-17000561	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs367902183	chr5:17000568-17000569	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs376792574	chr5:17000656-17000657	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs564240238	chr5:17000658-17000659	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs574983550	chr5:17000672-17000673	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs542258885	chr5:17000676-17000677	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs954604	chr5:17000709-17000710	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs370230162	chr5:17000724-17000725	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs574001670	chr5:17000746-17000747	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs541327753	chr5:17000826-17000827	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs374984735	chr5:17000900-17000901	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs4702187	chr5:17000921-17000922	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568416923	chr5:17000946-17000947	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs183959255	chr5:17000988-17000989	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs563813707	chr5:17001094-17001095	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs146433997	chr5:17001204-17001205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549402210	chr5:17001227-17001228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188659600	chr5:17001238-17001239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72734336	chr5:17001253-17001254	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs74562104	chr5:17001260-17001261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140978478	chr5:17001267-17001268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139327138	chr5:17001285-17001286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367739405	chr5:17001286-17001287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538494880	chr5:17001295-17001296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201996908	chr5:17001296-17001297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201484990	chr5:17001298-17001299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62369740	chr5:17001339-17001340	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369957380	chr5:17001386-17001387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574996077	chr5:17001454-17001455	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs572990175	chr5:17001489-17001490	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs150198714	chr5:17001574-17001575	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs535901434	chr5:17001638-17001639	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs191338768	chr5:17001713-17001714	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs572720658	chr5:17001737-17001738	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs138992727	chr5:17001746-17001747	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs559828692	chr5:17001781-17001782	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs372974840	chr5:17001787-17001788	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs578190401	chr5:17001809-17001810	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs533855552	chr5:17001810-17001811	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs143733486	chr5:17001844-17001845	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs563826784	chr5:17001881-17001882	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs531036521	chr5:17001902-17001903	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs369239410	chr5:17001905-17001906	Weak transcription Enhancers Flanking Active TSS	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:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16995200-17000400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:16995400-17007200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:16995600-17000600	Weak transcription	HMEC	breast
4	chr5:16995600-17000600	Weak transcription	NHDF-Ad	bronchial
5	chr5:16995800-17000600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:16995800-17000800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:16995800-17000800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:16995800-17000800	Weak transcription	HSMM	muscle
9	chr5:16996000-17000400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:16996000-17000600	Weak transcription	NH-A	brain
11	chr5:16998800-17001000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:16999600-17000400	Enhancers	A549	lung
13	chr5:16999600-17000600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:16999600-17006600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:16999800-17000600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:16999800-17001800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:16999800-17002200	Enhancers	NHLF	lung
18	chr5:17000000-17000600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:17000000-17001200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:17000000-17001400	Enhancers	HUVEC	blood vessel
21	chr5:17000000-17001400	Enhancers	NHEK	skin
22	chr5:17000000-17001600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:17000200-17000600	Enhancers	Osteobl	bone
24	chr5:17000200-17000800	Enhancers	HSMMtube	muscle
25	chr5:17000200-17001000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:17000200-17001800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:17000400-17000800	Flanking Active TSS	A549	lung
28	chr5:17000400-17001000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:17000400-17001000	Enhancers	Hela-S3	cervix
30	chr5:17000400-17001200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:17000400-17001200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr5:17000600-17001000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:17000600-17001000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:17000600-17001000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:17000600-17001000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr5:17000600-17001000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:17000600-17001000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr5:17000600-17001000	Flanking Active TSS	NHDF-Ad	bronchial
39	chr5:17000600-17001000	Flanking Active TSS	Osteobl	bone
40	chr5:17000600-17001600	Enhancers	HMEC	breast
41	chr5:17000600-17002200	Enhancers	NH-A	brain
42	chr5:17000800-17001000	Flanking Active TSS	HSMMtube	muscle
43	chr5:17000800-17001400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:17000800-17001600	Enhancers	A549	lung
45	chr5:17000800-17001800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:17000800-17002200	Enhancers	HSMM	muscle
47	chr5:17001000-17001200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:17001000-17001200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:17001000-17001200	Enhancers	HSMMtube	muscle
50	chr5:17001000-17001400	Enhancers	Muscle Satellite Cultured Cells	--

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