Variant report

Variant	nsv521804
Chromosome Location	chr8:63705238-63758070
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	chr10:1231043..1232833-chr8:63744046..63746893,2	K562	blood:
2	chr12:92008019..92008867-chr8:63749542..63750231,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185736	chromatin interactions

Extended variants
information (count: 883 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:883 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1471510	chr8:63706821-63706822	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568694662	chr8:63706852-63706853	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs186222609	chr8:63706860-63706861	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs17179995	chr8:63706866-63706867	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549815894	chr8:63706903-63706904	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs1471509	chr8:63706947-63706948	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs189065465	chr8:63706958-63706959	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs565580134	chr8:63706960-63706961	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs145207675	chr8:63706966-63706967	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs548083323	chr8:63707001-63707002	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs141405648	chr8:63707049-63707050	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs555813969	chr8:63707050-63707051	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs554575081	chr8:63707051-63707052	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs182056195	chr8:63707057-63707058	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs147006423	chr8:63707069-63707070	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs538489450	chr8:63707076-63707077	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs537873348	chr8:63707087-63707088	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs186466763	chr8:63707088-63707089	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs191801729	chr8:63707143-63707144	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs539174306	chr8:63707146-63707147	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs554401607	chr8:63707172-63707173	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs572678797	chr8:63707191-63707192	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs182459301	chr8:63708807-63708808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552393638	chr8:63708812-63708813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2170112	chr8:63708858-63708859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs187524397	chr8:63708901-63708902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71255362	chr8:63708971-63708972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540601684	chr8:63708978-63708979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552583209	chr8:63708988-63708989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62512420	chr8:63709003-63709004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs73256942	chr8:63709029-63709030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs116389918	chr8:63709059-63709060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530740002	chr8:63709060-63709061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545743421	chr8:63709072-63709073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75891208	chr8:63709089-63709090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192044935	chr8:63709115-63709116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182734789	chr8:63709163-63709164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189067907	chr8:63709169-63709170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149814266	chr8:63709208-63709209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527616008	chr8:63709218-63709219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145815794	chr8:63709227-63709228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530133968	chr8:63709229-63709230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547690055	chr8:63709234-63709235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148527009	chr8:63709237-63709238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570110928	chr8:63709249-63709250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370245994	chr8:63709337-63709338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144656283	chr8:63709348-63709349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6150611	chr8:63709349-63709350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs398008069	chr8:63709375-63709376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371407422	chr8:63709381-63709382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63706800-63707200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr8:63708800-63709800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:63709400-63710400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:63709600-63710000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:63710000-63710200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:63711000-63711400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:63712200-63712600	Active TSS	Fetal Heart	heart
8	chr8:63713000-63713600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr8:63726000-63726800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr8:63726800-63731400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:63733200-63733600	Enhancers	Brain Germinal Matrix	brain
12	chr8:63737400-63742000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:63738600-63740000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:63739000-63740200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:63739600-63739800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:63740000-63741200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:63740200-63741200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:63741200-63741600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:63741200-63741600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:63741200-63741600	Enhancers	Fetal Stomach	stomach
21	chr8:63741400-63741600	Enhancers	Left Ventricle	heart
22	chr8:63741600-63745000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:63743400-63744000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:63750000-63750400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:63750600-63751000	Enhancers	Fetal Brain Male	brain
26	chr8:63757400-63759000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:63758000-63758400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:63758000-63758400	Enhancers	Fetal Stomach	stomach
29	chr8:63758000-63758600	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links