Variant report

Variant	esv1799589
Chromosome Location	chr4:76951550-76954240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76950183..76953178-chr4:76959334..76961500,2	K562	blood:
2	chr4:76884899..76887580-chr4:76953090..76955387,2	K562	blood:
3	chr4:76951051..76953241-chr4:76957687..76959278,2	K562	blood:
4	chr4:76952586..76954582-chr4:76957355..76959268,3	K562	blood:
5	chr4:76946217..76947878-chr4:76952883..76955086,2	K562	blood:

Variant related genes	Relation type
ENSG00000225846	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6845396	chr4:76951550-76951551	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545479415	chr4:76951563-76951564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs151110799	chr4:76951575-76951576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531229616	chr4:76951609-76951610	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549469411	chr4:76951616-76951617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369814295	chr4:76951628-76951629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563234511	chr4:76951667-76951668	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530322219	chr4:76951668-76951669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187621477	chr4:76951682-76951683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs6850760	chr4:76951684-76951685	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs534356151	chr4:76951687-76951688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs10021768	chr4:76951764-76951765	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs564487523	chr4:76951772-76951773	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs34849988	chr4:76951800-76951801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371197009	chr4:76951804-76951805	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs77946135	chr4:76951814-76951815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs10007919	chr4:76951854-76951855	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs535365466	chr4:76951885-76951886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12508110	chr4:76952018-76952019	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs571928883	chr4:76952060-76952061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201724907	chr4:76952062-76952063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545567935	chr4:76952066-76952067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529005398	chr4:76952092-76952093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150236413	chr4:76952094-76952095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575720299	chr4:76952125-76952126	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs376067282	chr4:76952143-76952144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs386676193	chr4:76952278-76952279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs6852075	chr4:76952280-76952281	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs534841191	chr4:76952287-76952288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6846814	chr4:76952288-76952289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
31	rs6856958	chr4:76952356-76952357	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs138896290	chr4:76952358-76952359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs527890214	chr4:76952362-76952363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs374216750	chr4:76952389-76952390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs552764499	chr4:76952403-76952404	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs570998166	chr4:76952406-76952407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs141996075	chr4:76952453-76952454	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550178647	chr4:76952499-76952500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568350420	chr4:76952505-76952506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs77364022	chr4:76952515-76952516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs397994060	chr4:76952523-76952524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192854100	chr4:76952528-76952529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368425547	chr4:76952562-76952563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565594589	chr4:76952570-76952571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs145688368	chr4:76952636-76952637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs138360968	chr4:76952652-76952653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575759254	chr4:76952707-76952708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543133729	chr4:76952818-76952819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs142744595	chr4:76952829-76952830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144247406	chr4:76952859-76952860	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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76950200-76957000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:76950800-76956200	Weak transcription	Monocytes-CD14+_RO01746	blood

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