Variant report

Variant	nsv1024076
Chromosome Location	chr5:107991426-108028223
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:108027849..108029832-chr5:108036074..108038370,2	K562	blood:
2	chr5:107999341..108002221-chr5:108004738..108006270,2	K562	blood:
3	chr5:108013986..108016606-chr5:108083004..108086499,3	MCF-7	breast:
4	chr5:108007837..108010584-chr5:108014407..108016726,2	MCF-7	breast:
5	chr5:108021801..108024411-chr5:108062186..108064628,3	MCF-7	breast:
6	chr5:108023680..108026535-chr5:108082571..108085038,2	K562	blood:
7	chr5:108010422..108012038-chr5:108013854..108016187,2	K562	blood:
8	chr5:108007837..108010584-chr5:108014407..108016726,2	MCF-7	breast:
9	chr5:108016773..108017600-chr5:108774230..108775023,2	MCF-7	breast:
10	chr5:108016385..108017936-chr5:108083051..108084580,2	K562	blood:
11	chr5:108010422..108012038-chr5:108013854..108016187,2	K562	blood:
12	chr5:108013253..108015897-chr5:108063039..108065514,2	K562	blood:
13	chr5:107999341..108002221-chr5:108004738..108006270,2	K562	blood:
14	chr5:108017323..108020193-chr5:108082965..108084640,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000151422	chromatin interactions
ENSG00000272523	chromatin interactions

Extended variants
information (count: 1528 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1528 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111391893	chr5:107991465-107991466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148421065	chr5:107991488-107991489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546434586	chr5:107991494-107991495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567971376	chr5:107991549-107991550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116648370	chr5:107991590-107991591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538581732	chr5:107991636-107991637	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576548564	chr5:107991671-107991672	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182738511	chr5:107991674-107991675	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553730678	chr5:107991770-107991771	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550397476	chr5:107991772-107991773	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369843443	chr5:107991809-107991810	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561981822	chr5:107991826-107991827	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187167977	chr5:107991839-107991840	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527773085	chr5:107991853-107991854	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541175670	chr5:107991855-107991856	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56935800	chr5:107991905-107991906	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533182675	chr5:107991939-107991940	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550015338	chr5:107991970-107991971	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541976582	chr5:107991987-107991988	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569874306	chr5:107992067-107992068	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571894033	chr5:107992134-107992135	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529220383	chr5:107992149-107992150	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7730735	chr5:107992160-107992161	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs78316766	chr5:107992191-107992192	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534657359	chr5:107992227-107992228	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191723974	chr5:107992239-107992240	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557893940	chr5:107992247-107992248	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539104173	chr5:107992253-107992254	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571186947	chr5:107992264-107992265	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374962501	chr5:107992281-107992282	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377371438	chr5:107992282-107992283	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536666559	chr5:107992339-107992340	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9986247	chr5:107992443-107992444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187452673	chr5:107992444-107992445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150920564	chr5:107992448-107992449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141119467	chr5:107992459-107992460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146903132	chr5:107992466-107992467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541087561	chr5:107992523-107992524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79790343	chr5:107992538-107992539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112203761	chr5:107992611-107992612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532790967	chr5:107992619-107992620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193046496	chr5:107992631-107992632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75648483	chr5:107992634-107992635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141768536	chr5:107992657-107992658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386690938	chr5:107992675-107992676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1573993	chr5:107992676-107992677	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs185697240	chr5:107992678-107992679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147081352	chr5:107992712-107992713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571229182	chr5:107992715-107992716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2136160	chr5:107992737-107992738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107988800-107993600	Enhancers	Hela-S3	cervix
2	chr5:107989400-107992600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr5:107989400-107992600	Enhancers	NHDF-Ad	bronchial
4	chr5:107989600-107992800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:107990000-107991600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:107990000-108006200	Weak transcription	Fetal Heart	heart
7	chr5:107990200-107991600	Weak transcription	NH-A	brain
8	chr5:107990400-107991600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:107990400-107991600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:107990400-107991600	Weak transcription	NHLF	lung
11	chr5:107990600-107991600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:107990600-107991600	Weak transcription	Osteobl	bone
13	chr5:107991000-107991800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:107991200-107991800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:107991400-107991600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:107991400-107992200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:107991400-107992600	Enhancers	NHEK	skin
18	chr5:107991400-107992800	Enhancers	HMEC	breast
19	chr5:107991600-107992000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:107991600-107992200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:107991600-107992200	Enhancers	NH-A	brain
22	chr5:107991600-107992400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:107991600-107992400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:107991600-107992400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:107991600-107992600	Enhancers	NHLF	lung
26	chr5:107991600-107992600	Enhancers	Osteobl	bone
27	chr5:107991800-107992000	Enhancers	HSMM	muscle
28	chr5:107991800-107992600	Enhancers	Adipose Nuclei	Adipose
29	chr5:107992000-107996400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:107992200-107992400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:107992200-107997000	Weak transcription	NH-A	brain
32	chr5:107992400-107992800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:107992600-107996600	Weak transcription	NHDF-Ad	bronchial
34	chr5:107992600-107996600	Weak transcription	NHLF	lung
35	chr5:107992600-107997200	Weak transcription	NHEK	skin
36	chr5:107993000-107993600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr5:107993600-107996000	Weak transcription	Hela-S3	cervix
38	chr5:107993600-107996400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:107995400-107995600	Enhancers	Pancreas	Pancrea
40	chr5:107995400-107997000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:107995600-107996600	Weak transcription	Pancreas	Pancrea
42	chr5:107995800-107996800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:107995800-107996800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:107995800-107997000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr5:107995800-107997200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:107996000-107996400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr5:107996000-107998400	Enhancers	Hela-S3	cervix
48	chr5:107996000-107999000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:107996200-107996400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:107996200-107996600	Enhancers	Fetal Muscle Leg	muscle

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