Variant report

Variant	nsv465758
Chromosome Location	chr8:107860140-107861997
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	chr8:107776572..107779204-chr8:107860586..107863485,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2981196	chr8:107860140-107860141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140610529	chr8:107860172-107860173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554607708	chr8:107860184-107860185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56216641	chr8:107860200-107860201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145642595	chr8:107860201-107860202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551325994	chr8:107860231-107860232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574461743	chr8:107860241-107860242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550289984	chr8:107860287-107860288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569856113	chr8:107860346-107860347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10504087	chr8:107860362-107860363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557169223	chr8:107860483-107860484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549000363	chr8:107860488-107860489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182515970	chr8:107860511-107860512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577141076	chr8:107860583-107860584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111288675	chr8:107860617-107860618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189206457	chr8:107860618-107860619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546119483	chr8:107860645-107860646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146741165	chr8:107860680-107860681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577779847	chr8:107860755-107860756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538649161	chr8:107860776-107860777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62515056	chr8:107860796-107860797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs181555733	chr8:107860800-107860801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544134943	chr8:107860853-107860854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3018928	chr8:107860863-107860864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs116834160	chr8:107860887-107860888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541197248	chr8:107860894-107860895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559434936	chr8:107860921-107860922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533211611	chr8:107860970-107860971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545097565	chr8:107860972-107860973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140398909	chr8:107860974-107860975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530798770	chr8:107860984-107860985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145601181	chr8:107861044-107861045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567421320	chr8:107861084-107861085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138023746	chr8:107861089-107861090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149516656	chr8:107861127-107861128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571366914	chr8:107861146-107861147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6651200	chr8:107861230-107861231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs185705007	chr8:107861299-107861300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556771516	chr8:107861309-107861310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568869088	chr8:107861332-107861333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143062555	chr8:107861451-107861452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549896953	chr8:107861452-107861453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148222849	chr8:107861456-107861457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573961040	chr8:107861490-107861491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191583794	chr8:107861495-107861496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563531659	chr8:107861517-107861518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34247804	chr8:107861519-107861520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114753201	chr8:107861554-107861555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577807663	chr8:107861601-107861602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374821814	chr8:107861635-107861636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Multiple myeloma	17550852	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107852400-107865800	Weak transcription	NHDF-Ad	bronchial

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