Variant report

Variant	nsv1021299
Chromosome Location	chr5:152736614-152856299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:152811678..152814527-chr5:152817525..152820140,3	MCF-7	breast:
2	chr5:152824219..152826809-chr5:152867788..152870594,2	MCF-7	breast:
3	chr5:151928150..151931020-chr5:152818556..152820220,2	K562	blood:
4	chr5:152811678..152814527-chr5:152817525..152820140,3	MCF-7	breast:
5	chr5:152824027..152826822-chr5:153418164..153419854,2	MCF-7	breast:
6	chr5:152748733..152750253-chr8:43095024..43096754,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000037749	chromatin interactions
ENSG00000155511	chromatin interactions
ENSG00000055147	chromatin interactions

Extended variants
information (count: 3759 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:3759 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184537989	chr5:152736617-152736618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574934900	chr5:152736710-152736711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189299681	chr5:152736813-152736814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560481029	chr5:152736944-152736945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558632210	chr5:152736983-152736984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570438263	chr5:152737052-152737053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182272959	chr5:152737071-152737072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149985716	chr5:152737074-152737075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532824172	chr5:152737082-152737083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376839848	chr5:152737097-152737098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549710209	chr5:152737134-152737135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145145105	chr5:152737166-152737167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535324531	chr5:152737196-152737197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551065705	chr5:152737203-152737204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547004939	chr5:152737238-152737239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149136796	chr5:152737262-152737263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539545812	chr5:152737308-152737309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574593634	chr5:152737409-152737410	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs186061686	chr5:152737483-152737484	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs569282878	chr5:152737543-152737544	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs535257416	chr5:152737572-152737573	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs159978	chr5:152737575-152737576	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76939150	chr5:152737581-152737582	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs556750779	chr5:152737598-152737599	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs189320578	chr5:152737663-152737664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs373043617	chr5:152737673-152737674	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs542507507	chr5:152737717-152737718	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs545873318	chr5:152737745-152737746	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs554159973	chr5:152737766-152737767	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs572328370	chr5:152737862-152737863	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs546314153	chr5:152737874-152737875	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs79805545	chr5:152737877-152737878	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs377404350	chr5:152737906-152737907	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs180979327	chr5:152737914-152737915	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs185362212	chr5:152737950-152737951	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs190126009	chr5:152737958-152737959	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs547263829	chr5:152737967-152737968	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs565701575	chr5:152738009-152738010	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145075275	chr5:152738016-152738017	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551503166	chr5:152738038-152738039	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114930837	chr5:152738065-152738066	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569657009	chr5:152738081-152738082	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200912779	chr5:152738087-152738088	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182745090	chr5:152738094-152738095	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13167568	chr5:152738095-152738096	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544118337	chr5:152738125-152738126	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200139699	chr5:152738126-152738127	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556814273	chr5:152738173-152738174	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568642293	chr5:152738177-152738178	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140677311	chr5:152738223-152738224	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152733000-152738000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:152737400-152737800	ZNF genes & repeats	GM12878-XiMat	blood
3	chr5:152737800-152738000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:152737800-152738000	Enhancers	Brain Anterior Caudate	brain
5	chr5:152737800-152738000	Flanking Active TSS	GM12878-XiMat	blood
6	chr5:152737800-152738600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:152738000-152738400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:152738000-152738400	Active TSS	Brain Anterior Caudate	brain
9	chr5:152738000-152738400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr5:152738000-152738400	Active TSS	GM12878-XiMat	blood
11	chr5:152738000-152739200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:152738400-152738600	Enhancers	Brain Anterior Caudate	brain
13	chr5:152738400-152738800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr5:152738400-152738800	Flanking Active TSS	GM12878-XiMat	blood
15	chr5:152738800-152740200	Weak transcription	GM12878-XiMat	blood
16	chr5:152740200-152741000	Enhancers	GM12878-XiMat	blood
17	chr5:152741000-152745200	Weak transcription	GM12878-XiMat	blood
18	chr5:152745200-152745600	Enhancers	GM12878-XiMat	blood
19	chr5:152745200-152746000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr5:152745200-152746000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:152745400-152746000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:152745400-152746200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:152745600-152746200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:152746000-152746200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:152746200-152760600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:152751800-152752200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:152751800-152752200	Enhancers	HMEC	breast
28	chr5:152751800-152753000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:152752000-152752800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:152752200-152752600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:152775400-152775600	Enhancers	Aorta	Aorta
32	chr5:152776800-152779600	Weak transcription	Aorta	Aorta
33	chr5:152778600-152779600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:152778800-152779400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:152778800-152779400	Enhancers	HSMM	muscle
36	chr5:152778800-152779400	Enhancers	Osteobl	bone
37	chr5:152779000-152779600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:152779000-152779600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:152779200-152779400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:152779400-152779800	Weak transcription	HSMM	muscle
41	chr5:152779400-152780400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:152779400-152781800	Weak transcription	Osteobl	bone
43	chr5:152779400-152784200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:152779600-152779800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:152779600-152779800	Enhancers	Aorta	Aorta
46	chr5:152779600-152780000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr5:152779600-152781800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:152779800-152780400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:152779800-152783200	Enhancers	HSMM	muscle
50	chr5:152779800-152791400	Weak transcription	Aorta	Aorta

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