Variant report

Variant	esv1806654
Chromosome Location	chr4:166003471-166010815
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	chr4:166008810..166011207-chr4:166017239..166019604,2	K562	blood:
2	chr4:166006157..166008971-chr4:166032182..166034962,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170088	chromatin interactions

Extended variants
information (count: 251 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540093124	chr4:166003636-166003637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72631699	chr4:166003707-166003708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201491299	chr4:166003985-166003986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200939848	chr4:166004114-166004115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140302345	chr4:166004138-166004139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144163428	chr4:166004199-166004200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183936899	chr4:166004239-166004240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533449701	chr4:166004251-166004252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116726687	chr4:166004263-166004264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113050554	chr4:166004272-166004273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566828945	chr4:166004313-166004314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151174659	chr4:166004490-166004491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139106582	chr4:166004538-166004539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567948927	chr4:166004556-166004557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368999653	chr4:166004979-166004980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373093505	chr4:166004982-166004983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377738030	chr4:166004987-166004988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371386964	chr4:166004997-166004998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538583661	chr4:166005013-166005014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556781573	chr4:166005014-166005015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57420746	chr4:166005026-166005027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60518212	chr4:166005027-166005028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60170324	chr4:166005034-166005035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76341693	chr4:166005037-166005038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10032165	chr4:166005042-166005043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61352174	chr4:166005055-166005056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557573874	chr4:166005061-166005062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192019464	chr4:166005097-166005098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184125075	chr4:166005127-166005128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188522838	chr4:166005154-166005155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573577693	chr4:166005189-166005190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375862175	chr4:166005215-166005216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201913754	chr4:166005232-166005233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191526595	chr4:166005255-166005256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562667576	chr4:166005276-166005277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533002551	chr4:166005282-166005283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200183149	chr4:166005364-166005365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545436751	chr4:166005443-166005444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542908960	chr4:166005453-166005454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560389330	chr4:166005454-166005455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11732522	chr4:166005499-166005500	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs549393909	chr4:166005500-166005501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561177264	chr4:166005505-166005506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367594844	chr4:166005560-166005561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572906431	chr4:166005600-166005601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184420399	chr4:166005609-166005610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571768685	chr4:166005631-166005632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79027385	chr4:166005686-166005687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146866058	chr4:166005688-166005689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556102281	chr4:166005726-166005727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165979000-166005600	Weak transcription	Pancreas	Pancrea
2	chr4:165980600-166005800	Weak transcription	Aorta	Aorta
3	chr4:165980600-166007000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:165985000-166007200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:165990600-166007000	Weak transcription	Right Ventricle	heart
6	chr4:165990800-166026600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:165991600-166008400	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:165993600-166007000	Weak transcription	Fetal Lung	lung
9	chr4:165994200-166007800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:165994200-166008600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:165994400-166006600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:165994600-166006000	Weak transcription	Placenta	Placenta
13	chr4:165994600-166032800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:165994800-166005600	Weak transcription	Fetal Brain Female	brain
15	chr4:165994800-166006400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:165994800-166007400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:165995400-166019600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:165995600-166005400	Weak transcription	Lung	lung
19	chr4:165995800-166005200	Weak transcription	Spleen	Spleen
20	chr4:165995800-166005600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:165995800-166007000	Weak transcription	K562	blood
22	chr4:165996000-166007000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:165996000-166019800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:165996000-166033000	Weak transcription	Thymus	Thymus
25	chr4:165996200-166007000	Weak transcription	Fetal Kidney	kidney
26	chr4:165996200-166008200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:165996600-166006400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr4:165996600-166009400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:165996800-166032600	Weak transcription	Hela-S3	cervix
30	chr4:165997200-166006000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:165997400-166005200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr4:165997400-166018600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr4:165997800-166007000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:165997800-166007000	Weak transcription	GM12878-XiMat	blood
35	chr4:165997800-166032400	Weak transcription	Fetal Brain Male	brain
36	chr4:165998000-166006600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:165998000-166006800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:165998800-166007000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:165998800-166007000	Weak transcription	Brain Germinal Matrix	brain
40	chr4:165999000-166005200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:165999000-166007200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr4:165999000-166007400	Weak transcription	HMEC	breast
43	chr4:165999000-166009000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:165999000-166022800	Weak transcription	HUVEC	blood vessel
45	chr4:165999000-166023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:165999200-166009000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:165999200-166020600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr4:165999400-166007000	Weak transcription	HSMMtube	muscle
49	chr4:165999400-166007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:165999400-166008200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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