Variant report

Variant	esv3344301
Chromosome Location	chr4:187846208-187848531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:187676723..187679624-chr4:187847276..187848972,2	K562	blood:
2	chr4:187844136..187846877-chr4:187850742..187852747,2	K562	blood:
3	chr4:187848247..187850848-chr4:187854272..187856829,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113560370	chr4:187846220-187846221	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs201653241	chr4:187846230-187846231	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs113950015	chr4:187846236-187846237	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186654666	chr4:187846246-187846247	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs13104365	chr4:187846255-187846256	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs112739710	chr4:187846260-187846261	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs74556178	chr4:187846276-187846277	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs565431627	chr4:187846280-187846281	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs577377148	chr4:187846284-187846285	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs192470561	chr4:187846362-187846363	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs184456999	chr4:187846378-187846379	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs4862743	chr4:187846388-187846389	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs566332371	chr4:187846450-187846451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144932886	chr4:187846484-187846485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189341343	chr4:187846565-187846566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181327829	chr4:187846631-187846632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113931652	chr4:187846642-187846643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147947119	chr4:187846647-187846648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62343118	chr4:187846699-187846700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs77636219	chr4:187846719-187846720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536405047	chr4:187846723-187846724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564812689	chr4:187846776-187846777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532291887	chr4:187846781-187846782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4861730	chr4:187846794-187846795	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs140456439	chr4:187846915-187846916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112374527	chr4:187846924-187846925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72496345	chr4:187846930-187846931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534084718	chr4:187846955-187846956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376750653	chr4:187847009-187847010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543938729	chr4:187847037-187847038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563733824	chr4:187847051-187847052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570934627	chr4:187847092-187847093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7665481	chr4:187847112-187847113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543174783	chr4:187847201-187847202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10634539	chr4:187847224-187847225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs33926387	chr4:187847225-187847226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559667165	chr4:187847236-187847237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530448026	chr4:187847255-187847256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10634540	chr4:187847284-187847285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs33991898	chr4:187847285-187847286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538083946	chr4:187847289-187847290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527330610	chr4:187847338-187847339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199939408	chr4:187847385-187847386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528813867	chr4:187847458-187847459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10634541	chr4:187847459-187847460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556383378	chr4:187847463-187847464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367678788	chr4:187847464-187847465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376511746	chr4:187847465-187847466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537664982	chr4:187847469-187847470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374048645	chr4:187847478-187847479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
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
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Oral cancer	21386901	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187837200-187863800	Weak transcription	Right Atrium	heart
2	chr4:187840000-187853400	Weak transcription	Fetal Kidney	kidney
3	chr4:187842000-187852400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:187842600-187848600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:187842600-187852200	Weak transcription	HMEC	breast
6	chr4:187845400-187846400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:187845400-187846400	Enhancers	Fetal Lung	lung
8	chr4:187845400-187846400	Enhancers	NHLF	lung
9	chr4:187845400-187846800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:187845600-187846400	Enhancers	HSMM	muscle
11	chr4:187845800-187846400	Enhancers	HSMMtube	muscle
12	chr4:187845800-187846400	Flanking Active TSS	NHDF-Ad	bronchial
13	chr4:187845800-187851200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:187846000-187846400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:187846000-187846400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:187846000-187846400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:187846000-187846400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:187846000-187846400	Enhancers	Gastric	stomach
19	chr4:187846000-187850400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:187846200-187846400	Active TSS	Fetal Brain Male	brain
21	chr4:187846200-187847800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:187846200-187848600	Weak transcription	NHEK	skin
23	chr4:187846200-187851400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:187846200-187851800	Weak transcription	Osteobl	bone
25	chr4:187846400-187848600	Weak transcription	NHDF-Ad	bronchial
26	chr4:187846400-187849800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:187846400-187851200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:187846400-187851200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:187846400-187853400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:187846800-187848600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:187847800-187848800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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