Variant report

Variant	nsv946508
Chromosome Location	chr1:173320660-173321343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173321113..173322636-chr1:173324721..173327158,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRDX6-4	chr1:173320828-173321143	NONHSAT007630

Extended variants
information (count: 25 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368712630	chr1:173320674-173320675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552917124	chr1:173320686-173320687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3050237	chr1:173320696-173320697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61582547	chr1:173320698-173320699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6700233	chr1:173320716-173320717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574540728	chr1:173320754-173320755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545046250	chr1:173320784-173320785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541644985	chr1:173320826-173320827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557122311	chr1:173320853-173320854	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs372835160	chr1:173320854-173320855	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs2027497	chr1:173320886-173320887	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182125200	chr1:173320959-173320960	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs142302650	chr1:173321055-173321056	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs541676646	chr1:173321139-173321140	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs186807440	chr1:173321160-173321161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193226987	chr1:173321243-173321244	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185622341	chr1:173321244-173321245	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548575120	chr1:173321245-173321246	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6703494	chr1:173321248-173321249	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530875082	chr1:173321256-173321257	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377153658	chr1:173321273-173321274	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189202761	chr1:173321287-173321288	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6688438	chr1:173321315-173321316	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570486702	chr1:173321316-173321317	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534631111	chr1:173321319-173321320	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173300600-173329200	Weak transcription	Primary T cells from cord blood	blood
2	chr1:173301400-173321200	Weak transcription	Ovary	ovary
3	chr1:173309200-173324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:173311800-173334000	Weak transcription	HSMMtube	muscle
5	chr1:173315200-173333000	Weak transcription	Left Ventricle	heart
6	chr1:173320400-173321200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:173321200-173321400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:173321200-173321600	ZNF genes & repeats	Ovary	ovary

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