Variant report

Variant	nsv971234
Chromosome Location	chr8:50842641-50848642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 237 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2449957	chr8:50842706-50842707	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185006270	chr8:50842779-50842780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575560184	chr8:50842782-50842783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570545670	chr8:50842812-50842813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs5891333	chr8:50842823-50842824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397709334	chr8:50842831-50842832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79702239	chr8:50842832-50842833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538871899	chr8:50842854-50842855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535817801	chr8:50842866-50842867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554564886	chr8:50842874-50842875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10112818	chr8:50842883-50842884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs66887917	chr8:50843052-50843053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376956588	chr8:50843054-50843055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200126425	chr8:50843059-50843060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs406337	chr8:50843082-50843083	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564879703	chr8:50843083-50843084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190975502	chr8:50843089-50843090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544456484	chr8:50843104-50843105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34139870	chr8:50843122-50843123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs66871209	chr8:50843135-50843136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373938829	chr8:50843147-50843148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568456394	chr8:50843176-50843177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35976581	chr8:50843226-50843227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs365318	chr8:50843275-50843276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs117736004	chr8:50843328-50843329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs391798	chr8:50843343-50843344	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561336793	chr8:50843354-50843355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183250491	chr8:50843380-50843381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12542776	chr8:50843407-50843408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547060290	chr8:50843494-50843495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs384406	chr8:50843503-50843504	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs188010193	chr8:50843521-50843522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550784086	chr8:50843524-50843525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113772498	chr8:50843533-50843534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111314899	chr8:50843556-50843557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372100209	chr8:50843584-50843585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139911454	chr8:50843615-50843616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554222299	chr8:50843658-50843659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566461513	chr8:50843675-50843676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533594710	chr8:50843757-50843758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193014246	chr8:50843800-50843801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558607002	chr8:50843845-50843846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577042748	chr8:50843857-50843858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs578069121	chr8:50843864-50843865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535900796	chr8:50843867-50843868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557399715	chr8:50843908-50843909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs380279	chr8:50843927-50843928	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs562384611	chr8:50843941-50843942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556399679	chr8:50843947-50843948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574736201	chr8:50843962-50843963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50838600-50854400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:50838800-50853200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:50841800-50844000	Enhancers	Dnd41	blood
4	chr8:50842200-50850400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:50847600-50847800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:50847600-50848800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:50848000-50848400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr8:50848200-50848600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:50848400-50848600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:50848600-50850200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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