Variant report

Variant	nsv969959
Chromosome Location	chr5:57486620-57495174
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57481839..57487904-chr5:57753425..57757545,13	MCF-7	breast:
2	chr5:57476926..57490322-chr5:57753628..57758155,26	MCF-7	breast:
3	chr5:57488571..57490590-chr5:57754494..57756578,2	MCF-7	breast:
4	chr5:57485569..57487719-chr5:57497536..57499208,2	MCF-7	breast:
5	chr5:57484407..57487299-chr5:57751311..57753522,2	MCF-7	breast:
6	chr5:57490051..57491954-chr5:57748730..57750590,2	MCF-7	breast:
7	chr5:57491345..57493282-chr5:57753448..57756024,2	MCF-7	breast:
8	chr5:57491744..57493656-chr5:57496111..57497946,2	MCF-7	breast:
9	chr5:57485425..57487725-chr5:57748196..57751309,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145632	chromatin interactions

Extended variants
information (count: 340 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545946238	chr5:57486661-57486662	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546269564	chr5:57486673-57486674	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs114406869	chr5:57486691-57486692	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535334142	chr5:57486703-57486704	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548725620	chr5:57486704-57486705	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139139276	chr5:57486717-57486718	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs77349627	chr5:57486726-57486727	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368842119	chr5:57486789-57486790	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs116520664	chr5:57486812-57486813	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371804116	chr5:57486875-57486876	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149968347	chr5:57486961-57486962	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534914052	chr5:57486971-57486972	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182951214	chr5:57486993-57486994	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553499913	chr5:57487003-57487004	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372162622	chr5:57487064-57487065	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs78137803	chr5:57487074-57487075	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140564475	chr5:57487092-57487093	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563447629	chr5:57487098-57487099	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs116053459	chr5:57487122-57487123	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190199754	chr5:57487127-57487128	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571426625	chr5:57487136-57487137	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565863904	chr5:57487231-57487232	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181898696	chr5:57487235-57487236	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186424208	chr5:57487236-57487237	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539982270	chr5:57487271-57487272	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368853923	chr5:57487279-57487280	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs561641086	chr5:57487287-57487288	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs115091470	chr5:57487291-57487292	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558489438	chr5:57487295-57487296	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs548521380	chr5:57487299-57487300	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376098899	chr5:57487300-57487301	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372814131	chr5:57487345-57487346	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs10940600	chr5:57487346-57487347	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs531268215	chr5:57487454-57487455	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374911231	chr5:57487459-57487460	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10940601	chr5:57487472-57487473	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs570903778	chr5:57487474-57487475	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535004256	chr5:57487478-57487479	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs191309438	chr5:57487494-57487495	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568465309	chr5:57487503-57487504	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs71624190	chr5:57487516-57487517	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556428009	chr5:57487522-57487523	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574025911	chr5:57487531-57487532	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556892269	chr5:57487557-57487558	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs575379244	chr5:57487563-57487564	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs78729801	chr5:57487566-57487567	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557622486	chr5:57487568-57487569	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373628281	chr5:57487603-57487604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs2910597	chr5:57487610-57487611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs542089647	chr5:57487623-57487624	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57483000-57488400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:57484200-57488200	Enhancers	Hela-S3	cervix
3	chr5:57484400-57486800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:57484400-57487400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:57484600-57487000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:57484600-57487600	Flanking Active TSS	A549	lung
7	chr5:57485000-57487000	Weak transcription	Liver	Liver
8	chr5:57485400-57487800	Weak transcription	Adipose Nuclei	Adipose
9	chr5:57485600-57486800	Enhancers	Fetal Kidney	kidney
10	chr5:57485600-57487000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:57485800-57490400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:57486000-57487000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:57486000-57487200	Weak transcription	HMEC	breast
14	chr5:57486000-57487200	Weak transcription	Osteobl	bone
15	chr5:57486000-57488200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:57486200-57487000	Weak transcription	HSMMtube	muscle
17	chr5:57486400-57487400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:57486600-57486800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:57486800-57487200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:57486800-57488000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:57487000-57487200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:57487000-57487200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:57487000-57487200	Enhancers	HSMMtube	muscle
24	chr5:57487000-57487400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:57487000-57487400	Enhancers	Liver	Liver
26	chr5:57487000-57487600	Enhancers	Brain Hippocampus Middle	brain
27	chr5:57487000-57487800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:57487200-57487400	Enhancers	Osteobl	bone
29	chr5:57487200-57487600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:57487200-57488200	Enhancers	HMEC	breast
31	chr5:57487400-57487600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:57487400-57488000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:57487600-57488200	Enhancers	A549	lung
34	chr5:57487800-57488000	Enhancers	Adipose Nuclei	Adipose
35	chr5:57487800-57497600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:57488000-57488400	Weak transcription	Adipose Nuclei	Adipose
37	chr5:57488200-57488400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr5:57490400-57491000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:57491000-57491200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:57491200-57491400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:57491400-57491800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:57491800-57492000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:57492000-57492200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:57492200-57492400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:57492400-57493800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:57493400-57493800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:57493600-57494200	Enhancers	Adipose Nuclei	Adipose
48	chr5:57493600-57494400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:57493800-57496200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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