Variant report

Variant	esv3341345
Chromosome Location	chr8:42613495-42617693
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	chr8:42614471..42617049-chr8:42620797..42622845,2	K562	blood:

Extended variants
information (count: 169 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113570598	chr8:42613495-42613496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73633782	chr8:42613501-42613502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370119382	chr8:42613502-42613503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374305140	chr8:42613506-42613507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10109864	chr8:42613516-42613517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535372854	chr8:42613545-42613546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182863251	chr8:42613594-42613595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374977850	chr8:42613616-42613617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568453927	chr8:42613638-42613639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185205353	chr8:42613648-42613649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557299313	chr8:42613659-42613660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577312910	chr8:42613663-42613664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539929281	chr8:42613692-42613693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190317933	chr8:42613693-42613694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146434529	chr8:42613709-42613710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138925441	chr8:42613732-42613733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375381454	chr8:42613771-42613772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562210317	chr8:42613910-42613911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115898980	chr8:42613939-42613940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543895264	chr8:42613957-42613958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182629286	chr8:42613978-42613979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574366323	chr8:42613983-42613984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532905956	chr8:42613994-42613995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546251298	chr8:42614003-42614004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6651366	chr8:42614020-42614021	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs187615514	chr8:42614050-42614051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548750463	chr8:42614057-42614058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140414997	chr8:42614059-42614060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150379145	chr8:42614098-42614099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs55984829	chr8:42614134-42614135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372340529	chr8:42614170-42614171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553620449	chr8:42614171-42614172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367957345	chr8:42614173-42614174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199652759	chr8:42614192-42614193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200790588	chr8:42614194-42614195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371581272	chr8:42614212-42614213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201337765	chr8:42614217-42614218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550738238	chr8:42614230-42614231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199556613	chr8:42614238-42614239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200699353	chr8:42614271-42614272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193153690	chr8:42614286-42614287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199977747	chr8:42614296-42614297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183252235	chr8:42614303-42614304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189061841	chr8:42614304-42614305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138010492	chr8:42614327-42614328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2916316	chr8:42614350-42614351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115304375	chr8:42614363-42614364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs892413	chr8:42614378-42614379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs575897373	chr8:42614385-42614386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78495123	chr8:42614406-42614407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Rhabdomyosarcoma	16790082	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21045282	CNVD
Lung cancer	17925434	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42601200-42615400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:42608800-42629200	Weak transcription	Right Atrium	heart
3	chr8:42610200-42615600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:42611400-42613600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:42611400-42614400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:42611400-42615600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:42613400-42616000	Enhancers	HepG2	liver
8	chr8:42613600-42613800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:42613800-42614000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr8:42613800-42618600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:42614600-42614800	Enhancers	Fetal Muscle Trunk	muscle
12	chr8:42615200-42615600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:42615200-42615600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr8:42615200-42617200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:42615200-42617200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:42615200-42619000	Enhancers	Liver	Liver
17	chr8:42615400-42615600	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr8:42615400-42617200	Enhancers	Brain Substantia Nigra	brain
19	chr8:42615400-42617400	Enhancers	Pancreas	Pancrea
20	chr8:42615600-42615800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:42615600-42615800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:42615600-42615800	Genic enhancers	H9 Cell Line	embryonic stem cell
23	chr8:42615600-42615800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:42615600-42615800	Flanking Active TSS	Spleen	Spleen
25	chr8:42615600-42616200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:42615600-42616200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:42615600-42616600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr8:42615600-42616600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr8:42615600-42616800	Enhancers	Brain Angular Gyrus	brain
30	chr8:42615600-42616800	Enhancers	K562	blood
31	chr8:42615600-42617000	Enhancers	Brain Anterior Caudate	brain
32	chr8:42615600-42617000	Enhancers	Brain Cingulate Gyrus	brain
33	chr8:42615600-42617000	Enhancers	Brain Hippocampus Middle	brain
34	chr8:42615600-42617000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr8:42615600-42617200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:42615800-42616000	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr8:42615800-42616000	Active TSS	Spleen	Spleen
38	chr8:42615800-42616200	Enhancers	GM12878-XiMat	blood
39	chr8:42615800-42618800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:42615800-42619800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:42615800-42620200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:42616000-42616800	Enhancers	Colonic Mucosa	Colon
43	chr8:42616000-42616800	Flanking Active TSS	HepG2	liver
44	chr8:42616000-42618200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:42616200-42618400	Weak transcription	GM12878-XiMat	blood
46	chr8:42616200-42623400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:42616400-42616600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr8:42616400-42617400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr8:42616600-42618000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr8:42616800-42617600	Enhancers	HepG2	liver

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