Variant report

Variant	nsv1034158
Chromosome Location	chr5:107995509-108018395
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:107999341..108002221-chr5:108004738..108006270,2	K562	blood:
2	chr5:108017323..108020193-chr5:108082965..108084640,2	K562	blood:
3	chr5:108013253..108015897-chr5:108063039..108065514,2	K562	blood:
4	chr5:108010422..108012038-chr5:108013854..108016187,2	K562	blood:
5	chr5:108007837..108010584-chr5:108014407..108016726,2	MCF-7	breast:
6	chr5:108016385..108017936-chr5:108083051..108084580,2	K562	blood:
7	chr5:108007837..108010584-chr5:108014407..108016726,2	MCF-7	breast:
8	chr5:108010422..108012038-chr5:108013854..108016187,2	K562	blood:
9	chr5:108016773..108017600-chr5:108774230..108775023,2	MCF-7	breast:
10	chr5:108013986..108016606-chr5:108083004..108086499,3	MCF-7	breast:
11	chr5:107999341..108002221-chr5:108004738..108006270,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272523	chromatin interactions
ENSG00000151422	chromatin interactions

Extended variants
information (count: 923 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:923 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7719300	chr5:107995509-107995510	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112162528	chr5:107995518-107995519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116421913	chr5:107995528-107995529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538790915	chr5:107995573-107995574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552536390	chr5:107995601-107995602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569202959	chr5:107995622-107995623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372134951	chr5:107995635-107995636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553975595	chr5:107995656-107995657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554457807	chr5:107995666-107995667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183095690	chr5:107995727-107995728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533715571	chr5:107995751-107995752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186665468	chr5:107995761-107995762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572046346	chr5:107995815-107995816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576860028	chr5:107995821-107995822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545624860	chr5:107995871-107995872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562454825	chr5:107995926-107995927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61246893	chr5:107995927-107995928	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544888360	chr5:107995944-107995945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561593360	chr5:107995951-107995952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530448177	chr5:107995954-107995955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4957561	chr5:107995982-107995983	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs75209652	chr5:107995998-107995999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149902255	chr5:107996020-107996021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552394193	chr5:107996033-107996034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2940519	chr5:107996039-107996040	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537870847	chr5:107996105-107996106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189608986	chr5:107996138-107996139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527894651	chr5:107996147-107996148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376763099	chr5:107996187-107996188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4957777	chr5:107996193-107996194	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs78972768	chr5:107996194-107996195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556810819	chr5:107996219-107996220	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182585526	chr5:107996254-107996255	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539481892	chr5:107996263-107996264	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143907398	chr5:107996267-107996268	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148605701	chr5:107996268-107996269	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541827467	chr5:107996306-107996307	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74344306	chr5:107996308-107996309	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201053220	chr5:107996315-107996316	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11954718	chr5:107996382-107996383	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532696759	chr5:107996392-107996393	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147963098	chr5:107996523-107996524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77986972	chr5:107996579-107996580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77150097	chr5:107996635-107996636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532611208	chr5:107996656-107996657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546248927	chr5:107996700-107996701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377106634	chr5:107996717-107996718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564627456	chr5:107996758-107996759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566309898	chr5:107996777-107996778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9326743	chr5:107996787-107996788	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107990000-108006200	Weak transcription	Fetal Heart	heart
2	chr5:107992000-107996400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:107992200-107997000	Weak transcription	NH-A	brain
4	chr5:107992600-107996600	Weak transcription	NHDF-Ad	bronchial
5	chr5:107992600-107996600	Weak transcription	NHLF	lung
6	chr5:107992600-107997200	Weak transcription	NHEK	skin
7	chr5:107993600-107996000	Weak transcription	Hela-S3	cervix
8	chr5:107993600-107996400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:107995400-107995600	Enhancers	Pancreas	Pancrea
10	chr5:107995400-107997000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:107995600-107996600	Weak transcription	Pancreas	Pancrea
12	chr5:107995800-107996800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:107995800-107996800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:107995800-107997000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:107995800-107997200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:107996000-107996400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr5:107996000-107998400	Enhancers	Hela-S3	cervix
18	chr5:107996000-107999000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:107996200-107996400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:107996200-107996600	Enhancers	Fetal Muscle Leg	muscle
21	chr5:107996200-107998000	Enhancers	HUVEC	blood vessel
22	chr5:107996400-107996600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:107996400-107996600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:107996400-107997400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:107996400-107997600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:107996400-107999000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:107996600-107997000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:107996600-107997000	Enhancers	Right Atrium	heart
29	chr5:107996600-107997400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:107996600-107997600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:107996600-107997600	Enhancers	NHLF	lung
32	chr5:107996600-107997800	Enhancers	NHDF-Ad	bronchial
33	chr5:107996600-107998000	Enhancers	Pancreas	Pancrea
34	chr5:107996800-107998000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr5:107997000-107997400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:107997000-107997400	Enhancers	HepG2	liver
37	chr5:107997000-107997600	Enhancers	Liver	Liver
38	chr5:107997000-107997600	Enhancers	NH-A	brain
39	chr5:107997200-107997400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:107997200-107997800	Enhancers	NHEK	skin
41	chr5:107997200-107997800	Enhancers	Osteobl	bone
42	chr5:107997400-107997800	Enhancers	A549	lung
43	chr5:107997400-107999000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:107999000-108006400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:108006200-108006400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:108006200-108007000	Enhancers	Brain Substantia Nigra	brain
47	chr5:108006200-108007200	Enhancers	Fetal Heart	heart
48	chr5:108006200-108007400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:108006200-108007400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr5:108006200-108007400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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