Variant report

Variant	nsv880683
Chromosome Location	chr5:9091164-9170323
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:12)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:9150640..9153251-chr5:9156234..9158472,2	K562	blood:
2	chr5:9156103..9157064-chr5:9498778..9499591,5	MCF-7	breast:
3	chr5:9124544..9126489-chr5:9143792..9145664,2	MCF-7	breast:
4	chr5:9115551..9117946-chr5:9119149..9122126,2	K562	blood:
5	chr5:9103532..9106142-chr5:9119093..9121647,2	K562	blood:
6	chr5:9150640..9153251-chr5:9156234..9158472,2	K562	blood:
7	chr5:9103532..9106142-chr5:9119093..9121647,2	K562	blood:
8	chr3:79582026..79582841-chr5:9099703..9100242,2	MCF-7	breast:
9	chr5:9156325..9157040-chr5:9207169..9208216,3	MCF-7	breast:
10	chr5:9124544..9126489-chr5:9143792..9145664,2	MCF-7	breast:
11	chr5:9115551..9117946-chr5:9119149..9122126,2	K562	blood:
12	chr5:9170039..9172556-chr5:9176143..9178435,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAS2R1-21	chr5:9157257-9157593	NONHSAT100329
2	lnc-CCT5-29	chr5:9151947-9152392	NONHSAT100328
3	lnc-CCT5-28	chr5:9168275-9168565	NONHSAT100330
4	lnc-TAS2R1-22	chr5:9131997-9132274	NONHSAT100327
5	lnc-CCT5-30	chr5:9121791-9122074	NONHSAT100326

No data

Extended variants
information (count: 3333 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:3333 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs253634	chr5:9091164-9091165	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187787159	chr5:9091191-9091192	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs567570515	chr5:9091275-9091276	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs112002019	chr5:9091291-9091292	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs79065199	chr5:9091308-9091309	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs563894276	chr5:9091317-9091318	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs532139460	chr5:9091332-9091333	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs148291480	chr5:9091336-9091337	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs565407859	chr5:9091367-9091368	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs141577644	chr5:9091374-9091375	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs146381554	chr5:9091385-9091386	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs139730613	chr5:9091408-9091409	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs192572895	chr5:9091411-9091412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs571132184	chr5:9091464-9091465	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs538647664	chr5:9091489-9091490	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs144379153	chr5:9091496-9091497	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs146224402	chr5:9091497-9091498	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs35282462	chr5:9091625-9091626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538788474	chr5:9091646-9091647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139216856	chr5:9091684-9091685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575304918	chr5:9091691-9091692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541448715	chr5:9091693-9091694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554997653	chr5:9091732-9091733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184040521	chr5:9091749-9091750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544076287	chr5:9091757-9091758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564180894	chr5:9091819-9091820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528192319	chr5:9091850-9091851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563755620	chr5:9091879-9091880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532762036	chr5:9091908-9091909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546045904	chr5:9091978-9091979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372561685	chr5:9091985-9091986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559030038	chr5:9091988-9091989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546322744	chr5:9091998-9091999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375561973	chr5:9092037-9092038	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs149897993	chr5:9092079-9092080	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs542796308	chr5:9092093-9092094	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs547828975	chr5:9092161-9092162	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs114795133	chr5:9092166-9092167	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs567711018	chr5:9092171-9092172	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs188576080	chr5:9092224-9092225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550830056	chr5:9092256-9092257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193001422	chr5:9092278-9092279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs16881962	chr5:9092298-9092299	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs79897958	chr5:9092306-9092307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566183391	chr5:9092309-9092310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535110555	chr5:9092343-9092344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184853628	chr5:9092352-9092353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs57592719	chr5:9092373-9092374	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537021750	chr5:9092374-9092375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528903152	chr5:9092406-9092407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Lung adenocarcinoma	17982442	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:923 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9040800-9122000	Weak transcription	Colonic Mucosa	Colon
2	chr5:9065400-9115800	Weak transcription	Aorta	Aorta
3	chr5:9066000-9106600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:9066600-9107000	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:9066600-9107400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:9066800-9091400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:9067000-9104800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:9070200-9095400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:9070200-9104800	Weak transcription	Fetal Stomach	stomach
10	chr5:9070200-9104800	Weak transcription	NHLF	lung
11	chr5:9070200-9107200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:9070800-9093400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:9082400-9107200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:9086000-9104800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:9086000-9104800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:9086200-9115000	Weak transcription	Fetal Intestine Small	intestine
17	chr5:9087200-9105600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:9089000-9091400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:9089400-9093800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:9089400-9099800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:9090400-9091600	Flanking Active TSS	Dnd41	blood
22	chr5:9090800-9091400	Enhancers	Colon Smooth Muscle	Colon
23	chr5:9090800-9095800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:9091000-9092800	Enhancers	Fetal Heart	heart
25	chr5:9091400-9093800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:9091600-9092000	Enhancers	Dnd41	blood
27	chr5:9092000-9092200	Flanking Active TSS	Dnd41	blood
28	chr5:9092200-9092400	Enhancers	Pancreas	Pancrea
29	chr5:9092200-9093200	Enhancers	Dnd41	blood
30	chr5:9092200-9093400	Enhancers	Liver	Liver
31	chr5:9092400-9093600	Weak transcription	Pancreas	Pancrea
32	chr5:9092800-9115000	Weak transcription	Fetal Heart	heart
33	chr5:9093400-9094200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:9093400-9107200	Weak transcription	Liver	Liver
35	chr5:9093600-9094200	Enhancers	Pancreas	Pancrea
36	chr5:9093800-9094000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:9093800-9095400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:9094000-9106600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:9094200-9099800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:9094200-9115000	Weak transcription	Pancreas	Pancrea
41	chr5:9094400-9095000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:9094400-9095400	Enhancers	NHDF-Ad	bronchial
43	chr5:9094600-9095000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:9094600-9095000	Enhancers	HSMMtube	muscle
45	chr5:9094600-9095400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:9094600-9095400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr5:9094800-9095200	Enhancers	Rectal Smooth Muscle	rectum
48	chr5:9095000-9095200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:9095000-9098800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:9095200-9104800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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