Variant report

Variant	esv1795715
Chromosome Location	chr4:172999916-173010013
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	chr4:172979164..172981714-chr4:172998153..173000134,2	K562	blood:
2	chr4:173007639..173009652-chr4:173056667..173058243,2	K562	blood:

Extended variants
information (count: 198 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:198 , 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	rs2877689	chr4:172999916-172999917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544750444	chr4:172999953-172999954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372294974	chr4:172999979-172999980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7435840	chr4:172999983-172999984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146735049	chr4:172999987-172999988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545468937	chr4:173000005-173000006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35639710	chr4:173000038-173000039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139382187	chr4:173000048-173000049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528052405	chr4:173000050-173000051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541764683	chr4:173000096-173000097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533061453	chr4:173000136-173000137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7435885	chr4:173000146-173000147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376823358	chr4:173000168-173000169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144158621	chr4:173000185-173000186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7662946	chr4:173000201-173000202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550843519	chr4:173000226-173000227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570639892	chr4:173000236-173000237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187335560	chr4:173000262-173000263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11941535	chr4:173000279-173000280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528120053	chr4:173000300-173000301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552072820	chr4:173000307-173000308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192229654	chr4:173000324-173000325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566773756	chr4:173000354-173000355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184616868	chr4:173000363-173000364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35946515	chr4:173000372-173000373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397880357	chr4:173000379-173000380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200453894	chr4:173000380-173000381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555794612	chr4:173000426-173000427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111239480	chr4:173000451-173000452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75746377	chr4:173000453-173000454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189232180	chr4:173000497-173000498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577799165	chr4:173000547-173000548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544802505	chr4:173000569-173000570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553001987	chr4:173000584-173000585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572763265	chr4:173000585-173000586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193226376	chr4:173000603-173000604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561526932	chr4:173000633-173000634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565127055	chr4:173000635-173000636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551154802	chr4:173000642-173000643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575524172	chr4:173000648-173000649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184723867	chr4:173000718-173000719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567806476	chr4:173000724-173000725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533132892	chr4:173000739-173000740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72698980	chr4:173000741-173000742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs533268060	chr4:173000762-173000763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77841151	chr4:173000774-173000775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1394849	chr4:173000808-173000809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs148928021	chr4:173000848-173000849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549403236	chr4:173000901-173000902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546721412	chr4:173000907-173000908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	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
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
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172999600-173004800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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