Variant report

Variant	esv2757968
Chromosome Location	chr4:172267259-172295257
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	chr4:172212656..172215279-chr4:172273980..172275669,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10017493	chr4:172269009-172269010	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567300027	chr4:172269035-172269036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10017580	chr4:172269158-172269159	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192045623	chr4:172269217-172269218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570161196	chr4:172269226-172269227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143781947	chr4:172269264-172269265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553847624	chr4:172269295-172269296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559004003	chr4:172269322-172269323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74849970	chr4:172269400-172269401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2877640	chr4:172274229-172274230	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs116792722	chr4:172274239-172274240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530681708	chr4:172274247-172274248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550901302	chr4:172274267-172274268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562768700	chr4:172274337-172274338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561018950	chr4:172274371-172274372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531493282	chr4:172274373-172274374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60704723	chr4:172274422-172274423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9312502	chr4:172274428-172274429	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113979839	chr4:172274469-172274470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3898912	chr4:172274503-172274504	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs369322808	chr4:172274527-172274528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527819798	chr4:172274532-172274533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547443924	chr4:172274543-172274544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142068589	chr4:172274579-172274580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536992993	chr4:172274580-172274581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373130977	chr4:172274593-172274594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs59449752	chr4:172274604-172274605	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570361025	chr4:172274617-172274618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151138973	chr4:172274648-172274649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557832673	chr4:172274682-172274683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577672645	chr4:172274701-172274702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3857028	chr4:172274704-172274705	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553802825	chr4:172274745-172274746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576272124	chr4:172274752-172274753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183281698	chr4:172274787-172274788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139425006	chr4:172274863-172274864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34646721	chr4:172274935-172274936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199985611	chr4:172274971-172274972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554739883	chr4:172274979-172274980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs398108317	chr4:172274982-172274983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531548625	chr4:172274986-172274987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150059420	chr4:172275022-172275023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564944601	chr4:172275050-172275051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10024990	chr4:172275105-172275106	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114124393	chr4:172275108-172275109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567713963	chr4:172275112-172275113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572291972	chr4:172275150-172275151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9994171	chr4:172275212-172275213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560090733	chr4:172275232-172275233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570145645	chr4:172275251-172275252	Enhancers	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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172269000-172269400	Enhancers	Adipose Nuclei	Adipose
2	chr4:172274200-172275400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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