Variant report

Variant	nsv1016483
Chromosome Location	chr5:8908533-8978530
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:8951345..8954087-chr5:8958515..8960198,2	K562	blood:
2	chr5:8948042..8950890-chr5:8955170..8958329,3	K562	blood:
3	chr5:8951345..8954087-chr5:8958515..8960198,2	K562	blood:
4	chr5:8948042..8950890-chr5:8955170..8958329,3	K562	blood:
5	chr5:8974747..8977167-chr5:8980772..8982966,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRR-18	chr5:8934000-8934632	ucscGeneNc_uc003jej_2
2	lnc-MTRR-18	chr5:8922079-8922130	ucscGeneNc_uc003jej_2
3	lnc-MTRR-18	chr5:8926848-8926971	ucscGeneNc_uc003jej_2

No data

Extended variants
information (count: 2989 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:2989 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2963341	chr5:8908533-8908534	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527259909	chr5:8908597-8908598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191303963	chr5:8908631-8908632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567179502	chr5:8908664-8908665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114447809	chr5:8908672-8908673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117205125	chr5:8908696-8908697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79912549	chr5:8908703-8908704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560768641	chr5:8908728-8908729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143830929	chr5:8908735-8908736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558208711	chr5:8908759-8908760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375648607	chr5:8908780-8908781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558246363	chr5:8908795-8908796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577976364	chr5:8908854-8908855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148157933	chr5:8908861-8908862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2963342	chr5:8908886-8908887	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs574337781	chr5:8908890-8908891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182322601	chr5:8908892-8908893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2963343	chr5:8908896-8908897	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563117241	chr5:8908913-8908914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13360202	chr5:8908930-8908931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs558971117	chr5:8908944-8908945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187755338	chr5:8908955-8908956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75564910	chr5:8908959-8908960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs16881651	chr5:8908967-8908968	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542143702	chr5:8909007-8909008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs16881653	chr5:8909091-8909092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs571236306	chr5:8909142-8909143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77203598	chr5:8909162-8909163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566917119	chr5:8909186-8909187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76185890	chr5:8909192-8909193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563318375	chr5:8909225-8909226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569541350	chr5:8909232-8909233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192628356	chr5:8909233-8909234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530758574	chr5:8909256-8909257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538798159	chr5:8909290-8909291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202083039	chr5:8909309-8909310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141049308	chr5:8909312-8909313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145085414	chr5:8909371-8909372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs137971453	chr5:8909374-8909375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184285266	chr5:8909375-8909376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533945234	chr5:8909392-8909393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2963344	chr5:8909428-8909429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs190308804	chr5:8909431-8909432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2963345	chr5:8909508-8909509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs532696907	chr5:8909541-8909542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192614183	chr5:8909552-8909553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371741626	chr5:8909601-8909602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386685301	chr5:8909611-8909612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4702598	chr5:8909613-8909614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs573056477	chr5:8909648-8909649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
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
T-cell prolymphocytic leukemia	17713554	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung adenocarcinoma	17982442	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8904600-8908600	Enhancers	NHLF	lung
2	chr5:8904600-8908800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:8904600-8908800	Enhancers	HMEC	breast
4	chr5:8904600-8908800	Enhancers	NHDF-Ad	bronchial
5	chr5:8906000-8908800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:8906600-8908800	Enhancers	NH-A	brain
7	chr5:8907000-8909000	Enhancers	Dnd41	blood
8	chr5:8907400-8908800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:8907800-8908800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:8907800-8908800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:8908000-8908600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:8908000-8908800	Enhancers	NHEK	skin
13	chr5:8908000-8912000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:8908200-8908600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:8908200-8911800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:8908400-8908600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:8908600-8908800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:8908800-8911800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:8908800-8911800	Weak transcription	HMEC	breast
20	chr5:8908800-8911800	Weak transcription	NHEK	skin
21	chr5:8908800-8912000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:8908800-8912000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:8908800-8912000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:8908800-8912200	Weak transcription	NH-A	brain
25	chr5:8908800-8912200	Weak transcription	NHDF-Ad	bronchial
26	chr5:8908800-8912400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:8908800-8912400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:8909000-8913000	Weak transcription	Dnd41	blood
29	chr5:8911800-8912600	Enhancers	NHLF	lung
30	chr5:8911800-8912800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:8911800-8912800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:8911800-8912800	Enhancers	NHEK	skin
33	chr5:8911800-8913200	Enhancers	HMEC	breast
34	chr5:8912000-8912800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:8912000-8912800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:8912000-8912800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:8912000-8912800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:8912200-8912800	Enhancers	NH-A	brain
39	chr5:8912200-8912800	Enhancers	NHDF-Ad	bronchial
40	chr5:8912400-8912800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:8912400-8912800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:8912600-8913600	Weak transcription	NHLF	lung
43	chr5:8912800-8915400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:8912800-8935600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:8913000-8914200	Enhancers	Dnd41	blood
46	chr5:8913600-8913800	Enhancers	NHLF	lung
47	chr5:8918000-8918800	Enhancers	Esophagus	oesophagus
48	chr5:8918600-8918800	Enhancers	Spleen	Spleen
49	chr5:8918800-8919000	Enhancers	Fetal Lung	lung
50	chr5:8918800-8919400	Weak transcription	Esophagus	oesophagus

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