Variant report

Variant	esv1798129
Chromosome Location	chr4:173026078-173043756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:173037881..173039662-chr4:173039698..173041444,2	K562	blood:
2	chr4:173025369..173026870-chr4:173057043..173059254,2	K562	blood:
3	chr4:173041762..173043702-chr4:174254052..174255780,2	K562	blood:
4	chr4:173021211..173023179-chr4:173025772..173028444,2	K562	blood:
5	chr4:173037881..173039662-chr4:173039698..173041444,2	K562	blood:

Variant related genes	Relation type
ENSG00000164104	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2067512	chr4:173026078-173026079	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560542766	chr4:173026121-173026122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563390788	chr4:173026141-173026142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577075090	chr4:173026152-173026153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186279112	chr4:173026176-173026177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566098157	chr4:173030631-173030632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556478556	chr4:173030696-173030697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150462096	chr4:173030713-173030714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185629585	chr4:173030748-173030749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189699540	chr4:173030829-173030830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573661660	chr4:173030881-173030882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146331212	chr4:173030935-173030936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115049145	chr4:173030978-173030979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182960883	chr4:173030990-173030991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113608162	chr4:173041763-173041764	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548548822	chr4:173041770-173041771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368770892	chr4:173041784-173041785	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs142636195	chr4:173041796-173041797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540030075	chr4:173041818-173041819	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75973241	chr4:173041832-173041833	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs17058072	chr4:173041859-173041860	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs539505050	chr4:173041883-173041884	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576608102	chr4:173041952-173041953	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs80268983	chr4:173041964-173041965	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572944804	chr4:173041978-173041979	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535455928	chr4:173041980-173041981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555672265	chr4:173042020-173042021	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191018481	chr4:173042041-173042042	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564473877	chr4:173042116-173042117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576880708	chr4:173042138-173042139	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545620548	chr4:173042146-173042147	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559487013	chr4:173042165-173042166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182336664	chr4:173042212-173042213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs548193237	chr4:173042327-173042328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561980138	chr4:173042340-173042341	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530689184	chr4:173042371-173042372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375731048	chr4:173042409-173042410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs62331105	chr4:173042442-173042443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs34817614	chr4:173042447-173042448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550755579	chr4:173042466-173042467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs555781484	chr4:173042486-173042487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566458716	chr4:173042491-173042492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570517479	chr4:173042510-173042511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs72992501	chr4:173042556-173042557	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186688133	chr4:173042620-173042621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566606112	chr4:173042670-173042671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs79682661	chr4:173042711-173042712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555311455	chr4:173042781-173042782	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569535288	chr4:173042859-173042860	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538113007	chr4:173042897-173042898	Weak transcription	Chromatin interactive region	1 gene(s)	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173026000-173026200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:173030600-173031000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:173042200-173043400	Weak transcription	K562	blood
4	chr4:173043400-173043600	Genic enhancers	K562	blood
5	chr4:173043600-173052800	Weak transcription	K562	blood

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