Variant report

Variant	nsv890940
Chromosome Location	chr8:59785412-59809785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59791129..59793196-chr8:59794387..59797068,2	K562	blood:
2	chr8:59801933..59804319-chr8:59804381..59806631,2	K562	blood:
3	chr8:59791129..59793196-chr8:59794387..59797068,2	K562	blood:
4	chr8:59801933..59804319-chr8:59804381..59806631,2	K562	blood:
5	chr8:59786146..59786678-chr8:59840796..59841756,2	MCF-7	breast:
6	chr8:59801544..59803959-chr8:59811921..59813443,2	K562	blood:
7	chr8:59720430..59720943-chr8:59801716..59802483,2	K562	blood:

Extended variants
information (count: 852 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:852 , 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	rs2726555	chr8:59785412-59785413	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377393718	chr8:59785418-59785419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556072532	chr8:59785438-59785439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553704284	chr8:59785446-59785447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575821432	chr8:59785467-59785468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368861245	chr8:59785489-59785490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371643716	chr8:59785498-59785499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115800911	chr8:59785513-59785514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555282770	chr8:59785514-59785515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2594957	chr8:59785563-59785564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73249058	chr8:59785579-59785580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564091080	chr8:59785652-59785653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs16924153	chr8:59785683-59785684	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs576607530	chr8:59785707-59785708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563223663	chr8:59785813-59785814	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532044073	chr8:59785876-59785877	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181218300	chr8:59785914-59785915	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562157053	chr8:59785920-59785921	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2594956	chr8:59785951-59785952	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186739841	chr8:59785995-59785996	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547602112	chr8:59785998-59785999	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542032323	chr8:59786027-59786028	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10095658	chr8:59786040-59786041	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189892386	chr8:59786191-59786192	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527332531	chr8:59786222-59786223	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549660981	chr8:59786225-59786226	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535377620	chr8:59786226-59786227	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555511461	chr8:59786260-59786261	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144676969	chr8:59786265-59786266	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368386189	chr8:59786289-59786290	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182051261	chr8:59786322-59786323	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372325942	chr8:59786354-59786355	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200388307	chr8:59786450-59786451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs386725936	chr8:59786453-59786454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200604012	chr8:59786454-59786455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114807056	chr8:59786455-59786456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs3115364	chr8:59786548-59786549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187089117	chr8:59786577-59786578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs55924550	chr8:59786596-59786597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35964164	chr8:59786620-59786621	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192313329	chr8:59786677-59786678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182078925	chr8:59786742-59786743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562283138	chr8:59786771-59786772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148518656	chr8:59786774-59786775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374629077	chr8:59786778-59786779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564107416	chr8:59786788-59786789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564286792	chr8:59786793-59786794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368297288	chr8:59786834-59786835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6983324	chr8:59786893-59786894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10957072	chr8:59786977-59786978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
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
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
Prostate cancer	16461572	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	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
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD

Chromatin state (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59764200-59806400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:59771400-59811000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:59771600-59794000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:59772600-59794400	Weak transcription	Small Intestine	intestine
5	chr8:59773400-59808200	Weak transcription	Thymus	Thymus
6	chr8:59774600-59789600	Weak transcription	Primary T cells from cord blood	blood
7	chr8:59777800-59788200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:59777800-59795000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:59778200-59789000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:59779400-59788800	Weak transcription	HUVEC	blood vessel
11	chr8:59780400-59785800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:59780400-59790000	Weak transcription	HSMM	muscle
13	chr8:59780600-59791600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:59780800-59788800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:59781400-59789000	Weak transcription	Fetal Thymus	thymus
16	chr8:59782200-59800200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:59782400-59788800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:59783400-59789200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:59784400-59789000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:59784400-59792600	Weak transcription	Aorta	Aorta
21	chr8:59785000-59786400	Enhancers	NHDF-Ad	bronchial
22	chr8:59785200-59786600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:59785400-59789000	Enhancers	Osteobl	bone
24	chr8:59785400-59792200	Weak transcription	Dnd41	blood
25	chr8:59785600-59786200	Enhancers	NHLF	lung
26	chr8:59785800-59786000	Enhancers	Brain Angular Gyrus	brain
27	chr8:59785800-59786400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:59785800-59786400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr8:59786000-59788600	Weak transcription	Brain Angular Gyrus	brain
30	chr8:59786200-59786400	Enhancers	Brain Substantia Nigra	brain
31	chr8:59786200-59787000	Enhancers	Adipose Nuclei	Adipose
32	chr8:59786200-59787600	Enhancers	Colon Smooth Muscle	Colon
33	chr8:59786200-59789000	Weak transcription	NHLF	lung
34	chr8:59786400-59786800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:59786400-59788200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:59786400-59788800	Weak transcription	NHDF-Ad	bronchial
37	chr8:59786400-59789200	Weak transcription	Brain Substantia Nigra	brain
38	chr8:59786600-59788200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:59786800-59787000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr8:59787000-59789000	Weak transcription	Adipose Nuclei	Adipose
41	chr8:59787000-59794600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr8:59787200-59787600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr8:59787200-59787600	Enhancers	Brain Anterior Caudate	brain
44	chr8:59787400-59787600	Enhancers	Brain Cingulate Gyrus	brain
45	chr8:59787400-59787600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:59787600-59788800	Weak transcription	Colon Smooth Muscle	Colon
47	chr8:59787600-59789000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:59787600-59789200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:59787600-59790000	Weak transcription	Brain Anterior Caudate	brain
50	chr8:59787600-59790000	Weak transcription	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links