Variant report

Variant	nsv597819
Chromosome Location	chr5:36445458-36472990
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:36391426..36394057-chr5:36449010..36450884,2	K562	blood:
2	chr5:36415500..36419149-chr5:36442914..36446558,5	K562	blood:
3	chr5:36448840..36449624-chr7:156724028..156724917,2	MCF-7	breast:
4	chr5:36457469..36459383-chr5:36460695..36462337,2	MCF-7	breast:
5	chr5:36416985..36419149-chr5:36442977..36445580,2	K562	blood:
6	chr5:36457469..36459383-chr5:36460695..36462337,2	MCF-7	breast:
7	chr5:36433442..36435493-chr5:36455039..36456735,2	K562	blood:
8	chr5:36438756..36441045-chr5:36448106..36450259,2	MCF-7	breast:

No data

Extended variants
information (count: 971 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:971 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1104824	chr5:36445458-36445459	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558401090	chr5:36445477-36445478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545744758	chr5:36445493-36445494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145527818	chr5:36445541-36445542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186120284	chr5:36445605-36445606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190048628	chr5:36445625-36445626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573793547	chr5:36445674-36445675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577118380	chr5:36445753-36445754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182978951	chr5:36445762-36445763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17358298	chr5:36445802-36445803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35963780	chr5:36445853-36445854	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12153257	chr5:36445889-36445890	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs148856586	chr5:36445903-36445904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565152397	chr5:36445907-36445908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541924172	chr5:36446023-36446024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2468521	chr5:36446066-36446067	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146922282	chr5:36446082-36446083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567418571	chr5:36446102-36446103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527638081	chr5:36446121-36446122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs137917278	chr5:36446122-36446123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375608123	chr5:36446162-36446163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2468520	chr5:36446201-36446202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569568921	chr5:36446207-36446208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538592519	chr5:36446214-36446215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558175281	chr5:36446215-36446216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571560276	chr5:36446240-36446241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2455269	chr5:36446265-36446266	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570286838	chr5:36446273-36446274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72730754	chr5:36446299-36446300	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs573830424	chr5:36446324-36446325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113701992	chr5:36446372-36446373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6886206	chr5:36446393-36446394	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs147126224	chr5:36446402-36446403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186718593	chr5:36446523-36446524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565039524	chr5:36446543-36446544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375076037	chr5:36446546-36446547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553210417	chr5:36446665-36446666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35207057	chr5:36446702-36446703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374988783	chr5:36446709-36446710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527583256	chr5:36446712-36446713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112375913	chr5:36446720-36446721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34478584	chr5:36446727-36446728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190716110	chr5:36446744-36446745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529884090	chr5:36446746-36446747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28360732	chr5:36446776-36446777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563353483	chr5:36446805-36446806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34220451	chr5:36446812-36446813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs28454379	chr5:36446823-36446824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571646932	chr5:36446831-36446832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182957002	chr5:36446868-36446869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
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
prenatal diagnosis	22389664	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21147910	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36439200-36446600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:36439800-36446400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:36440600-36445600	Enhancers	Stomach Mucosa	stomach
4	chr5:36440600-36445800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:36441600-36446600	Enhancers	Placenta	Placenta
6	chr5:36441800-36445600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:36441800-36446000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:36442600-36445600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:36443800-36445800	Enhancers	Esophagus	oesophagus
10	chr5:36443800-36445800	Enhancers	Pancreas	Pancrea
11	chr5:36443800-36446600	Enhancers	Brain Anterior Caudate	brain
12	chr5:36444200-36445600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:36444200-36445600	Enhancers	Brain Cingulate Gyrus	brain
14	chr5:36444200-36445800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:36444200-36445800	Enhancers	Brain Substantia Nigra	brain
16	chr5:36444200-36446000	Enhancers	Adipose Nuclei	Adipose
17	chr5:36444400-36445600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:36444400-36451800	Weak transcription	Fetal Kidney	kidney
19	chr5:36444800-36445600	Enhancers	NHEK	skin
20	chr5:36445000-36450400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:36445000-36451000	Weak transcription	HSMMtube	muscle
22	chr5:36445200-36445600	Enhancers	Fetal Muscle Trunk	muscle
23	chr5:36445200-36445600	Enhancers	Fetal Muscle Leg	muscle
24	chr5:36445200-36445600	Enhancers	Osteobl	bone
25	chr5:36445200-36445800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:36445200-36446000	Enhancers	Hela-S3	cervix
27	chr5:36445200-36450200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:36445400-36445800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:36445400-36445800	Enhancers	Brain Hippocampus Middle	brain
30	chr5:36445400-36448000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:36445400-36448000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:36445400-36449200	Weak transcription	HMEC	breast
33	chr5:36445400-36450400	Weak transcription	HSMM	muscle
34	chr5:36445400-36450400	Weak transcription	NH-A	brain
35	chr5:36445600-36447800	Weak transcription	NHEK	skin
36	chr5:36445600-36448200	Weak transcription	Stomach Mucosa	stomach
37	chr5:36445600-36449200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:36445600-36449800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:36445600-36450200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:36445600-36450400	Weak transcription	Osteobl	bone
41	chr5:36445800-36450600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:36445800-36452400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:36445800-36462800	Weak transcription	Esophagus	oesophagus
44	chr5:36446000-36446400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:36446000-36447800	Weak transcription	Hela-S3	cervix
46	chr5:36446400-36446600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:36446400-36446600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr5:36446400-36452000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:36446600-36448000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:36446600-36452400	Weak transcription	Placenta	Placenta

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