Variant report

Variant	esv1800046
Chromosome Location	chr5:17003017-17018360
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	chr5:17004434..17006256-chr5:17007845..17010404,2	K562	blood:
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	chr5:17005526..17008394-chr5:17011075..17012616,2	MCF-7	breast:
7	chr5:16934373..16937606-chr5:17013930..17017066,4	MCF-7	breast:
8	chr5:17017463..17019806-chr5:17023489..17025073,2	MCF-7	breast:
9	chr5:16999937..17003903-chr5:17005517..17010107,4	MCF-7	breast:
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: 754 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:754 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6870542	chr5:17003017-17003018	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191670149	chr5:17003039-17003040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112459091	chr5:17003074-17003075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6870564	chr5:17003085-17003086	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
5	rs575995577	chr5:17003129-17003130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543287856	chr5:17003181-17003182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77157675	chr5:17003185-17003186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185334160	chr5:17003197-17003198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200430869	chr5:17003259-17003260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540685176	chr5:17003283-17003284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190184344	chr5:17003284-17003285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145941610	chr5:17003295-17003296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6875390	chr5:17003312-17003313	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs544183016	chr5:17003365-17003366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6875279	chr5:17003402-17003403	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs371414657	chr5:17003473-17003474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529934263	chr5:17003560-17003561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193130168	chr5:17003592-17003593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560253427	chr5:17003595-17003596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10530245	chr5:17003601-17003602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs386403125	chr5:17003613-17003614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527412231	chr5:17003637-17003638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185782909	chr5:17003654-17003655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190258837	chr5:17003779-17003780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570434664	chr5:17003818-17003819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79979030	chr5:17003834-17003835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs386357911	chr5:17003835-17003836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28373252	chr5:17003836-17003837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370943612	chr5:17003844-17003845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139786722	chr5:17003845-17003846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143160677	chr5:17003866-17003867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115279515	chr5:17003929-17003930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550697788	chr5:17004015-17004016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536903905	chr5:17004029-17004030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554878028	chr5:17004088-17004089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373689931	chr5:17004111-17004112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535409927	chr5:17004150-17004151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573356629	chr5:17004190-17004191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534108631	chr5:17004197-17004198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569176765	chr5:17004213-17004214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113297321	chr5:17004237-17004238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544245750	chr5:17004238-17004239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572084599	chr5:17004243-17004244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562496819	chr5:17004244-17004245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11740850	chr5:17004246-17004247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs542074358	chr5:17004284-17004285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs5866227	chr5:17004291-17004292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs397788062	chr5:17004306-17004307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs199503311	chr5:17004307-17004308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115884185	chr5:17004326-17004327	Weak transcription Enhancers	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16995400-17007200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:16999600-17006600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:17001200-17004400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:17001200-17004400	Weak transcription	HSMMtube	muscle
5	chr5:17001800-17003400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:17001800-17004000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:17001800-17004400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:17001800-17004800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:17002000-17004400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:17002200-17004400	Weak transcription	HSMM	muscle
11	chr5:17002200-17004400	Weak transcription	NH-A	brain
12	chr5:17002200-17004400	Weak transcription	NHDF-Ad	bronchial
13	chr5:17002200-17004600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:17002200-17005600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:17002400-17004400	Weak transcription	Osteobl	bone
16	chr5:17002600-17003800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:17003400-17003600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:17003400-17003600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr5:17003600-17004400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:17003800-17004400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:17003800-17004800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:17003800-17004800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:17003800-17004800	Enhancers	Stomach Smooth Muscle	stomach
24	chr5:17004000-17006400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:17004400-17004600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:17004400-17004600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr5:17004400-17004600	Enhancers	Osteobl	bone
28	chr5:17004400-17004800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:17004400-17004800	Enhancers	Brain Anterior Caudate	brain
30	chr5:17004400-17004800	Enhancers	Brain Hippocampus Middle	brain
31	chr5:17004400-17005000	Enhancers	Fetal Muscle Leg	muscle
32	chr5:17004400-17005000	Enhancers	Psoas Muscle	Psoas
33	chr5:17004400-17005000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr5:17004400-17005200	Flanking Active TSS	HSMMtube	muscle
35	chr5:17004400-17005800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:17004400-17005800	Enhancers	HSMM	muscle
37	chr5:17004400-17005800	Enhancers	NH-A	brain
38	chr5:17004400-17005800	Enhancers	NHDF-Ad	bronchial
39	chr5:17004600-17004800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:17004600-17004800	Enhancers	Brain Germinal Matrix	brain
41	chr5:17004600-17005000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr5:17004600-17005200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:17004600-17005200	Enhancers	Brain Cingulate Gyrus	brain
44	chr5:17004600-17005400	Enhancers	Brain Angular Gyrus	brain
45	chr5:17004600-17005400	Enhancers	Brain Substantia Nigra	brain
46	chr5:17004600-17005600	Flanking Active TSS	Osteobl	bone
47	chr5:17004600-17005800	Enhancers	Fetal Lung	lung
48	chr5:17004800-17005000	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr5:17004800-17005000	Enhancers	Fetal Kidney	kidney
50	chr5:17004800-17005200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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