Variant report

Variant	esv3464598
Chromosome Location	chr4:166001527-166006375
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	chr4:166006157..166008971-chr4:166032182..166034962,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170088	chromatin interactions

Extended variants
information (count: 166 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:166 , 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	rs558432078	chr4:166001602-166001603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573316797	chr4:166001609-166001610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540812738	chr4:166001612-166001613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79584172	chr4:166001634-166001635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34122881	chr4:166001693-166001694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35500012	chr4:166001730-166001731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529791026	chr4:166001733-166001734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556759164	chr4:166001738-166001739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563240027	chr4:166001863-166001864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191755452	chr4:166001930-166001931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552138274	chr4:166001962-166001963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113237721	chr4:166001965-166001966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564414131	chr4:166001977-166001978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528414598	chr4:166002011-166002012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546754464	chr4:166002012-166002013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10010990	chr4:166002066-166002067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576692693	chr4:166002114-166002115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535524444	chr4:166002158-166002159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138190554	chr4:166002178-166002179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568866431	chr4:166002227-166002228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs68009410	chr4:166002236-166002237	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562363988	chr4:166002318-166002319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149303859	chr4:166002383-166002384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35079183	chr4:166002387-166002388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79420290	chr4:166002400-166002401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78322678	chr4:166002401-166002402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144563162	chr4:166002494-166002495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574411617	chr4:166002502-166002503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73007657	chr4:166002507-166002508	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574299227	chr4:166002513-166002514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371078048	chr4:166002521-166002522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148452029	chr4:166002531-166002532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79590243	chr4:166002540-166002541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143775255	chr4:166002545-166002546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560218325	chr4:166002558-166002559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34683966	chr4:166002593-166002594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575088075	chr4:166002596-166002597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13125502	chr4:166002628-166002629	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs13149969	chr4:166002629-166002630	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7437003	chr4:166002636-166002637	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs7440898	chr4:166002639-166002640	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528373894	chr4:166002689-166002690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546508797	chr4:166002690-166002691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561520434	chr4:166002691-166002692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529058503	chr4:166002692-166002693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11729118	chr4:166002697-166002698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202015298	chr4:166002703-166002704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112402986	chr4:166002704-166002705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111544491	chr4:166002721-166002722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112477601	chr4:166002724-166002725	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:184 , 50 per page) page: 1 2 3 4

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	chr4:165996000-166002000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:165996000-166007000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:165996000-166019800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:165996000-166033000	Weak transcription	Thymus	Thymus
26	chr4:165996200-166007000	Weak transcription	Fetal Kidney	kidney
27	chr4:165996200-166008200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:165996600-166006400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:165996600-166009400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:165996800-166001600	Strong transcription	Fetal Intestine Large	intestine
31	chr4:165996800-166032600	Weak transcription	Hela-S3	cervix
32	chr4:165997200-166006000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:165997400-166002400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:165997400-166002600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr4:165997400-166005200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr4:165997400-166018600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr4:165997800-166007000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:165997800-166007000	Weak transcription	GM12878-XiMat	blood
39	chr4:165997800-166032400	Weak transcription	Fetal Brain Male	brain
40	chr4:165998000-166006600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:165998000-166006800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:165998800-166007000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:165998800-166007000	Weak transcription	Brain Germinal Matrix	brain
44	chr4:165999000-166002000	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:165999000-166005200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:165999000-166007200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr4:165999000-166007400	Weak transcription	HMEC	breast
48	chr4:165999000-166009000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:165999000-166022800	Weak transcription	HUVEC	blood vessel
50	chr4:165999000-166023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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