Variant report

Variant	nsv6185
Chromosome Location	chr8:51213648-51237196
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:51219065..51222213-chr8:51225649..51228332,3	K562	blood:
2	chr1:144893909..144894771-chr8:51229590..51230343,2	MCF-7	breast:
3	chr8:51219065..51222213-chr8:51225649..51228332,3	K562	blood:

Extended variants
information (count: 555 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544227943	chr8:51213649-51213650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562793580	chr8:51213662-51213663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116587529	chr8:51213666-51213667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542989419	chr8:51213677-51213678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186573180	chr8:51213696-51213697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374135752	chr8:51213745-51213746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147899158	chr8:51213796-51213797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1584577	chr8:51213802-51213803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs565433218	chr8:51213844-51213845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534907201	chr8:51213902-51213903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551024557	chr8:51213904-51213905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34651805	chr8:51213909-51213910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs527358043	chr8:51213914-51213915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541115338	chr8:51213977-51213978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547746622	chr8:51214101-51214102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564550814	chr8:51214165-51214166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375222857	chr8:51214174-51214175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566237003	chr8:51214194-51214195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189838452	chr8:51214229-51214230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146049801	chr8:51214258-51214259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558228349	chr8:51214268-51214269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577007669	chr8:51214275-51214276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538031838	chr8:51214304-51214305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553280216	chr8:51214361-51214362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183230057	chr8:51214374-51214375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7008382	chr8:51214407-51214408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569478790	chr8:51214423-51214424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200434587	chr8:51214427-51214428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368130708	chr8:51214428-51214429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201198206	chr8:51214429-51214430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199848710	chr8:51214435-51214436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199907010	chr8:51214436-51214437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569790182	chr8:51214447-51214448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573378999	chr8:51214481-51214482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540769410	chr8:51214503-51214504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565361292	chr8:51214554-51214555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372792021	chr8:51214573-51214574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115190056	chr8:51214574-51214575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370160055	chr8:51214619-51214620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563052371	chr8:51214680-51214681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530375994	chr8:51214708-51214709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138328916	chr8:51214723-51214724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566175678	chr8:51214753-51214754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533536619	chr8:51214755-51214756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76910074	chr8:51214756-51214757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570507611	chr8:51214794-51214795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149629469	chr8:51214812-51214813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556290203	chr8:51214884-51214885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572197711	chr8:51214895-51214896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568273548	chr8:51214928-51214929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Lung cancer	18438408	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51209400-51220600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51220600-51221000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:51220600-51221000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:51220600-51221200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:51221000-51223400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:51221000-51223600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:51221200-51223400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:51221800-51222200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:51221800-51222400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:51223400-51224200	Enhancers	Brain Germinal Matrix	brain
11	chr8:51223400-51224800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:51223400-51225000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:51223600-51224400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:51223800-51224600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:51236200-51236400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:51236200-51236600	Active TSS	Fetal Heart	heart
17	chr8:51236400-51237800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links