Variant report

Variant	esv4839
Chromosome Location	chr8:59664366-59665474
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	chr8:59660635..59662949-chr8:59662976..59665704,2	K562	blood:
2	chr8:59651354..59652911-chr8:59663564..59666386,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TOX-2	chr8:59664958-59665163	NONHSAT126796

Extended variants
information (count: 43 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556997311	chr8:59664373-59664374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140925016	chr8:59664374-59664375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2726578	chr8:59664458-59664459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs536239810	chr8:59664471-59664472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs137881838	chr8:59664484-59664485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181398473	chr8:59664514-59664515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142005621	chr8:59664545-59664546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2634496	chr8:59664571-59664572	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145859814	chr8:59664576-59664577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535004105	chr8:59664588-59664589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544422441	chr8:59664630-59664631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560961099	chr8:59664636-59664637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375347771	chr8:59664657-59664658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12682262	chr8:59664659-59664660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34839660	chr8:59664672-59664673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529837697	chr8:59664698-59664699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543703881	chr8:59664718-59664719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546262774	chr8:59664728-59664729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186539195	chr8:59664759-59664760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532034235	chr8:59664783-59664784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553261464	chr8:59664870-59664871	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs571618432	chr8:59664902-59664903	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs190496015	chr8:59664945-59664946	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs138420105	chr8:59664993-59664994	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs567402777	chr8:59664998-59664999	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs572160830	chr8:59665026-59665027	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs536779251	chr8:59665067-59665068	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs553211476	chr8:59665077-59665078	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs2634497	chr8:59665088-59665089	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs149272065	chr8:59665097-59665098	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs558842733	chr8:59665113-59665114	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs575655481	chr8:59665138-59665139	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs575507128	chr8:59665177-59665178	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs143748391	chr8:59665191-59665192	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs554837844	chr8:59665222-59665223	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs539664790	chr8:59665250-59665251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs574429200	chr8:59665259-59665260	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs540295762	chr8:59665265-59665266	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs2634498	chr8:59665339-59665340	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181683179	chr8:59665352-59665353	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs545401382	chr8:59665390-59665391	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs565237468	chr8:59665443-59665444	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs28669287	chr8:59665460-59665461	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59657600-59666400	Weak transcription	Fetal Stomach	stomach
2	chr8:59661200-59669200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:59661400-59665000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:59661400-59674600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:59661600-59664800	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:59661600-59666800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:59661800-59664400	Weak transcription	NH-A	brain
8	chr8:59661800-59664800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:59661800-59664800	Weak transcription	HSMM	muscle
10	chr8:59661800-59664800	Weak transcription	Osteobl	bone
11	chr8:59661800-59665000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:59661800-59666000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:59662000-59666400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:59662600-59665000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:59663800-59664400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:59663800-59665400	Enhancers	Thymus	Thymus
17	chr8:59664000-59664800	Enhancers	A549	lung
18	chr8:59664000-59665400	Enhancers	NHEK	skin
19	chr8:59664000-59666800	Enhancers	NHDF-Ad	bronchial
20	chr8:59664200-59666800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:59664200-59667600	Enhancers	Hela-S3	cervix
22	chr8:59664400-59665400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:59664400-59665400	Enhancers	NH-A	brain
24	chr8:59664600-59665800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:59664800-59665200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:59664800-59665400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:59664800-59665400	Enhancers	HMEC	breast
28	chr8:59664800-59665400	Enhancers	HUVEC	blood vessel
29	chr8:59664800-59665600	Flanking Active TSS	A549	lung
30	chr8:59664800-59665800	Enhancers	Colon Smooth Muscle	Colon
31	chr8:59664800-59667000	Enhancers	Osteobl	bone
32	chr8:59664800-59667200	Enhancers	HSMM	muscle
33	chr8:59665000-59665200	Enhancers	Stomach Smooth Muscle	stomach
34	chr8:59665000-59665400	Enhancers	Left Ventricle	heart
35	chr8:59665000-59666800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:59665000-59666800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:59665400-59665800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr8:59665400-59665800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:59665400-59666200	Weak transcription	HMEC	breast
40	chr8:59665400-59666600	Enhancers	K562	blood

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