Variant report

Variant	nsv521432
Chromosome Location	chr17:66652594-66660827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKAR1A-1	chr17:66654789-66654876	ENSG00000267659.1
2	lnc-PRKAR1A-1	chr17:66654789-66654876	ENSG00000267659.1

Extended variants
information (count: 348 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117996995	chr17:66652661-66652662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578229865	chr17:66652704-66652705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148607395	chr17:66652728-66652729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368662742	chr17:66652730-66652731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372730734	chr17:66652764-66652765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114665953	chr17:66652805-66652806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572323381	chr17:66652829-66652830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199903155	chr17:66652844-66652845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542786920	chr17:66652871-66652872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144952871	chr17:66652898-66652899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182991764	chr17:66652899-66652900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11655091	chr17:66652978-66652979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11077688	chr17:66652983-66652984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs9675092	chr17:66653019-66653020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532890812	chr17:66653030-66653031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367606557	chr17:66653107-66653108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551394683	chr17:66653111-66653112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114305102	chr17:66653120-66653121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147949680	chr17:66653144-66653145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188201837	chr17:66653161-66653162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192786378	chr17:66653179-66653180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376753326	chr17:66653180-66653181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141768478	chr17:66653274-66653275	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs145511927	chr17:66653300-66653301	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs74000781	chr17:66653301-66653302	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs184467492	chr17:66653304-66653305	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs372492580	chr17:66653329-66653330	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs16973176	chr17:66653340-66653341	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187608571	chr17:66653401-66653402	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs543234841	chr17:66653402-66653403	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs192378705	chr17:66653410-66653411	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs76132696	chr17:66653415-66653416	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs573445763	chr17:66653450-66653451	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs184970707	chr17:66653462-66653463	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs188958611	chr17:66653519-66653520	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs577580616	chr17:66653533-66653534	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs544960808	chr17:66653552-66653553	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs181521527	chr17:66653577-66653578	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs184666038	chr17:66653623-66653624	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs527567327	chr17:66653636-66653637	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs7225388	chr17:66653667-66653668	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561067113	chr17:66653684-66653685	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs189806144	chr17:66653692-66653693	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs75969651	chr17:66653750-66653751	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs7225548	chr17:66653764-66653765	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs79060989	chr17:66653793-66653794	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs181453682	chr17:66653814-66653815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs80150970	chr17:66653826-66653827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs67108260	chr17:66653878-66653879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112282453	chr17:66653882-66653883	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
XY gonadal dysgenesis	20685758	CNVD
Gingival hyperplasia	19463983	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neuroblastoma	20406844	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Breast cancer	21045282	CNVD
Epilepsy	22083797	CNVD
Sezary syndrome	18413736	CNVD
Honadal dysgenesis	21408189	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66652600-66654400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr17:66652800-66654000	Enhancers	Ovary	ovary
3	chr17:66652800-66654600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:66653000-66653800	Enhancers	Brain Cingulate Gyrus	brain
5	chr17:66653000-66653800	Enhancers	Colon Smooth Muscle	Colon
6	chr17:66653200-66653400	Active TSS	HSMMtube	muscle
7	chr17:66653200-66653800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr17:66653200-66654400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:66653200-66654400	Enhancers	NHDF-Ad	bronchial
10	chr17:66653200-66654400	Enhancers	Osteobl	bone
11	chr17:66653200-66654600	Enhancers	HSMM	muscle
12	chr17:66653400-66653800	Enhancers	Brain Hippocampus Middle	brain
13	chr17:66653400-66653800	Flanking Active TSS	HSMMtube	muscle
14	chr17:66653400-66654400	Enhancers	Fetal Stomach	stomach
15	chr17:66653400-66654600	Enhancers	Fetal Kidney	kidney
16	chr17:66653800-66654400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr17:66653800-66654400	Enhancers	HSMMtube	muscle
18	chr17:66654400-66655400	Weak transcription	HSMMtube	muscle
19	chr17:66654600-66655200	Weak transcription	Fetal Kidney	kidney
20	chr17:66654600-66658000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:66655000-66656000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:66655000-66656000	Enhancers	NHEK	skin
23	chr17:66655200-66655400	Enhancers	Fetal Kidney	kidney
24	chr17:66655200-66656000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:66655200-66656000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr17:66655200-66656000	Enhancers	HMEC	breast
27	chr17:66655400-66655600	Enhancers	HSMMtube	muscle
28	chr17:66656000-66659200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr17:66656000-66661600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:66656200-66659200	Enhancers	Liver	Liver
31	chr17:66656600-66656800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr17:66656600-66657600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr17:66656800-66658800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr17:66657000-66659200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr17:66657200-66659400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr17:66657200-66659400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr17:66657200-66659600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr17:66657400-66659000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr17:66657400-66659000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr17:66657400-66659200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr17:66657600-66658000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr17:66657600-66658200	Enhancers	Fetal Brain Male	brain
43	chr17:66657800-66658400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:66658000-66658600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:66658000-66659800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr17:66658200-66659000	Enhancers	HepG2	liver
47	chr17:66658200-66659600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:66658200-66661200	Weak transcription	Fetal Brain Male	brain
49	chr17:66658400-66659000	Enhancers	Brain Germinal Matrix	brain
50	chr17:66658400-66659200	Enhancers	H9 Cell Line	embryonic stem cell

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