Variant report

Variant	nsv981618
Chromosome Location	chr7:153447238-153520581
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	chr7:149904533..149906054-chr7:153459094..153460640,2	K562	blood:
2	chr7:149887477..149889778-chr7:153473066..153474986,2	MCF-7	breast:

Extended variants
information (count: 523 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575359204	chr7:153447278-153447279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545474106	chr7:153447601-153447602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374815101	chr7:153447694-153447695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573008156	chr7:153447821-153447822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540438038	chr7:153447829-153447830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561580885	chr7:153447830-153447831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573478447	chr7:153447867-153447868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544344310	chr7:153447927-153447928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544055575	chr7:153447942-153447943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62486166	chr7:153447952-153447953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534351549	chr7:153447953-153447954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562631321	chr7:153447978-153447979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563366508	chr7:153448017-153448018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533368561	chr7:153448042-153448043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551437297	chr7:153448091-153448092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560865246	chr7:153448092-153448093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527947654	chr7:153448113-153448114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549638179	chr7:153448283-153448284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567889844	chr7:153448284-153448285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538438746	chr7:153448400-153448401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550737722	chr7:153448422-153448423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568932127	chr7:153448445-153448446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539422342	chr7:153448461-153448462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557433607	chr7:153448669-153448670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572782173	chr7:153448731-153448732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533869929	chr7:153448773-153448774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555239101	chr7:153448788-153448789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374218647	chr7:153448999-153449000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573539074	chr7:153449007-153449008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543960515	chr7:153449009-153449010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188210890	chr7:153449054-153449055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191225092	chr7:153449108-153449109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545403121	chr7:153449145-153449146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2622152	chr7:153449157-153449158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560321855	chr7:153449189-153449190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527665768	chr7:153449191-153449192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549747367	chr7:153449201-153449202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575203130	chr7:153449217-153449218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561556933	chr7:153449238-153449239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531952239	chr7:153449240-153449241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2622153	chr7:153449248-153449249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71243822	chr7:153449271-153449272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545930342	chr7:153449312-153449313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550352503	chr7:153449336-153449337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11349459	chr7:153449339-153449340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368670453	chr7:153449366-153449367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539191456	chr7:153449418-153449419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551433721	chr7:153449422-153449423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566391019	chr7:153449429-153449430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533770563	chr7:153449570-153449571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Breast cancer	21509527	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Autism	22102821	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:153447000-153449600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:153454600-153455000	Enhancers	Gastric	stomach
3	chr7:153456800-153457200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:153486400-153487000	Enhancers	Colon Smooth Muscle	Colon
5	chr7:153497200-153497400	Enhancers	Colon Smooth Muscle	Colon
6	chr7:153497400-153505200	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:153505200-153505600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:153505200-153505600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:153505200-153505600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:153505200-153505600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
11	chr7:153505200-153505600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:153505200-153505600	Enhancers	Colon Smooth Muscle	Colon
13	chr7:153505200-153505600	Enhancers	Esophagus	oesophagus
14	chr7:153505200-153505600	Active TSS	Gastric	stomach
15	chr7:153505200-153505600	ZNF genes & repeats	Pancreas	Pancrea

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