Variant report

Variant	nsv880323
Chromosome Location	chr5:9100211-9157454
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:4)
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	chr5:9124544..9126489-chr5:9143792..9145664,2	MCF-7	breast:
2	chr5:9124544..9126489-chr5:9143792..9145664,2	MCF-7	breast:
3	chr5:9150640..9153251-chr5:9156234..9158472,2	K562	blood:
4	chr5:9115551..9117946-chr5:9119149..9122126,2	K562	blood:
5	chr5:9150640..9153251-chr5:9156234..9158472,2	K562	blood:
6	chr5:9103532..9106142-chr5:9119093..9121647,2	K562	blood:
7	chr5:9156325..9157040-chr5:9207169..9208216,3	MCF-7	breast:
8	chr5:9156103..9157064-chr5:9498778..9499591,5	MCF-7	breast:
9	chr5:9115551..9117946-chr5:9119149..9122126,2	K562	blood:
10	chr5:9103532..9106142-chr5:9119093..9121647,2	K562	blood:
11	chr3:79582026..79582841-chr5:9099703..9100242,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

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

No data

Extended variants
information (count: 2383 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:2383 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17309469	chr5:9100211-9100212	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116511058	chr5:9100220-9100221	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145141765	chr5:9100229-9100230	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560372071	chr5:9100255-9100256	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138914452	chr5:9100287-9100288	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548414647	chr5:9100327-9100328	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549291942	chr5:9100400-9100401	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530819967	chr5:9100401-9100402	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552022141	chr5:9100426-9100427	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570857505	chr5:9100428-9100429	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567512513	chr5:9100433-9100434	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553186526	chr5:9100434-9100435	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143966007	chr5:9100435-9100436	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs253646	chr5:9100457-9100458	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs375410354	chr5:9100514-9100515	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555188670	chr5:9100535-9100536	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575260927	chr5:9100569-9100570	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544268276	chr5:9100599-9100600	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs16881976	chr5:9100609-9100610	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576812409	chr5:9100610-9100611	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540509339	chr5:9100695-9100696	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372421916	chr5:9100719-9100720	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111656645	chr5:9100739-9100740	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555941475	chr5:9100745-9100746	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373166080	chr5:9100790-9100791	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4146146	chr5:9100809-9100810	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs2387999	chr5:9100885-9100886	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148633322	chr5:9100939-9100940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562044363	chr5:9100961-9100962	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs957202	chr5:9101066-9101067	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374681649	chr5:9101069-9101070	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554537860	chr5:9101109-9101110	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572100602	chr5:9101112-9101113	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142732232	chr5:9101142-9101143	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116805763	chr5:9101208-9101209	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564125083	chr5:9101220-9101221	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533475589	chr5:9101241-9101242	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192557717	chr5:9101257-9101258	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs253647	chr5:9101276-9101277	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs113566651	chr5:9101292-9101293	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184359927	chr5:9101309-9101310	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113834928	chr5:9101343-9101344	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139403648	chr5:9101362-9101363	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537921187	chr5:9101409-9101410	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7722769	chr5:9101449-9101450	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs577732546	chr5:9101453-9101454	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563129964	chr5:9101455-9101456	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79942530	chr5:9101460-9101461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145301730	chr5:9101478-9101479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112463112	chr5:9101517-9101518	Weak transcription Strong 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:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

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	chr5:9067000-9104800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:9070200-9104800	Weak transcription	Fetal Stomach	stomach
8	chr5:9070200-9104800	Weak transcription	NHLF	lung
9	chr5:9070200-9107200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:9082400-9107200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:9086000-9104800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:9086000-9104800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:9086200-9115000	Weak transcription	Fetal Intestine Small	intestine
14	chr5:9087200-9105600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:9092800-9115000	Weak transcription	Fetal Heart	heart
16	chr5:9093400-9107200	Weak transcription	Liver	Liver
17	chr5:9094000-9106600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:9094200-9115000	Weak transcription	Pancreas	Pancrea
19	chr5:9095200-9104800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:9096800-9105200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:9099600-9101600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:9099800-9100800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:9099800-9101000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:9099800-9102200	Enhancers	Brain Germinal Matrix	brain
25	chr5:9100200-9100800	Enhancers	Dnd41	blood
26	chr5:9100800-9101800	Weak transcription	Dnd41	blood
27	chr5:9100800-9104800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:9101000-9104800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:9101600-9104800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:9101800-9102600	Enhancers	Dnd41	blood
31	chr5:9102200-9103200	Weak transcription	Brain Germinal Matrix	brain
32	chr5:9102200-9107400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:9103000-9104200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:9103200-9103800	Enhancers	Brain Germinal Matrix	brain
35	chr5:9103200-9104200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:9103600-9107200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:9103600-9107200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr5:9103800-9104400	Weak transcription	Brain Germinal Matrix	brain
39	chr5:9104200-9104600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:9104200-9104600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:9104400-9108600	Enhancers	Brain Germinal Matrix	brain
42	chr5:9104600-9105400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:9104600-9106000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:9104600-9106400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:9104800-9105000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:9104800-9105000	Enhancers	Spleen	Spleen
47	chr5:9104800-9105200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:9104800-9105200	Enhancers	Lung	lung
49	chr5:9104800-9105400	Strong transcription	Fetal Stomach	stomach
50	chr5:9104800-9105400	Genic enhancers	NHLF	lung

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