Variant report

Variant	esv3470357
Chromosome Location	chr5:16889522-16891459
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16883385..16886348-chr5:16888269..16889832,2	MCF-7	breast:
2	chr5:16889896..16891500-chr5:16935094..16936823,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145555	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538888210	chr5:16889541-16889542	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540642372	chr5:16889569-16889570	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs560843045	chr5:16889570-16889571	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs10068939	chr5:16889576-16889577	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs75996849	chr5:16889587-16889588	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs571793418	chr5:16889588-16889589	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528015271	chr5:16889607-16889608	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs10068948	chr5:16889608-16889609	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs546473451	chr5:16889612-16889613	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs201746767	chr5:16889615-16889616	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs564366761	chr5:16889640-16889641	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs531772157	chr5:16889646-16889647	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs2625169	chr5:16889660-16889661	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149120021	chr5:16889668-16889669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs529250338	chr5:16889762-16889763	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs571748330	chr5:16889825-16889826	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs143172444	chr5:16889828-16889829	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs543679369	chr5:16889844-16889845	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs2562341	chr5:16889887-16889888	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554176337	chr5:16889908-16889909	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs61420593	chr5:16889915-16889916	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569903201	chr5:16889923-16889924	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373243592	chr5:16889924-16889925	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555524159	chr5:16889931-16889932	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573732060	chr5:16889957-16889958	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542943548	chr5:16889964-16889965	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541111116	chr5:16889973-16889974	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559417328	chr5:16889983-16889984	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554874202	chr5:16889986-16889987	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186474221	chr5:16890014-16890015	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs151200203	chr5:16890038-16890039	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564402662	chr5:16890048-16890049	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs531807852	chr5:16890114-16890115	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543560761	chr5:16890115-16890116	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561854479	chr5:16890155-16890156	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs143686076	chr5:16890192-16890193	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs559444341	chr5:16890205-16890206	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529411109	chr5:16890211-16890212	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547870053	chr5:16890303-16890304	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs565970623	chr5:16890304-16890305	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533347629	chr5:16890319-16890320	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551402879	chr5:16890346-16890347	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs2562342	chr5:16890351-16890352	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573997594	chr5:16890355-16890356	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs537246430	chr5:16890360-16890361	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs140257710	chr5:16890362-16890363	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191871419	chr5:16890371-16890372	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146958429	chr5:16890374-16890375	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577564008	chr5:16890378-16890379	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577580564	chr5:16890379-16890380	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16874000-16894600	Weak transcription	Esophagus	oesophagus
2	chr5:16878200-16893800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:16880600-16894800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:16881000-16889800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:16881800-16889800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:16882000-16894200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:16882600-16889800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:16882800-16895600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:16884400-16894800	Weak transcription	Psoas Muscle	Psoas
10	chr5:16885200-16889800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:16885200-16891000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:16885400-16894200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:16886000-16892400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:16886000-16893600	Weak transcription	Colonic Mucosa	Colon
15	chr5:16886200-16889600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:16886200-16889800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:16886200-16894400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:16886400-16889800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:16886400-16890800	Enhancers	HSMMtube	muscle
20	chr5:16886400-16891400	Weak transcription	Aorta	Aorta
21	chr5:16886600-16889600	Enhancers	A549	lung
22	chr5:16886600-16889600	Enhancers	Hela-S3	cervix
23	chr5:16886600-16890600	Enhancers	Osteobl	bone
24	chr5:16886800-16889800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:16886800-16889800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:16887200-16894000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:16887400-16889600	Weak transcription	NHLF	lung
28	chr5:16887400-16891200	Enhancers	NHDF-Ad	bronchial
29	chr5:16887400-16894200	Weak transcription	Placenta	Placenta
30	chr5:16887600-16894200	Weak transcription	Adipose Nuclei	Adipose
31	chr5:16887800-16890200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:16888000-16889600	Enhancers	Lung	lung
33	chr5:16888000-16889800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:16888000-16891800	Enhancers	Fetal Muscle Leg	muscle
35	chr5:16888200-16889600	Enhancers	HUVEC	blood vessel
36	chr5:16888200-16890600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:16888200-16890600	Enhancers	Ovary	ovary
38	chr5:16888200-16890800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:16888400-16890200	Enhancers	Fetal Intestine Small	intestine
40	chr5:16888400-16890600	Enhancers	Stomach Mucosa	stomach
41	chr5:16888600-16889600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:16888600-16889800	Enhancers	NHEK	skin
43	chr5:16888600-16890000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:16888600-16890600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:16888600-16891400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr5:16888600-16891800	Enhancers	Fetal Intestine Large	intestine
47	chr5:16888600-16892000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:16888600-16892400	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr5:16888600-16893000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:16888600-16893000	Enhancers	Duodenum Mucosa	Duodenum

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