Variant report

Variant	nsv1010833
Chromosome Location	chr4:79945299-79964080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79959121..79962093-chr4:79967361..79969057,2	K562	blood:
2	chr4:79962952..79963679-chr4:81105091..81105941,3	MCF-7	breast:
3	chr4:79959717..79962130-chr4:79962284..79964886,2	K562	blood:
4	chr4:79963382..79963898-chr4:80312179..80313004,2	K562	blood:
5	chr4:79875322..79875845-chr4:79962992..79963610,2	MCF-7	breast:
6	chr4:79963329..79963907-chr4:80497328..80498247,2	K562	blood:
7	chr4:79943664..79946142-chr9:83452129..83453630,2	MCF-7	breast:
8	chr4:79963311..79963867-chr4:80497354..80497886,2	MCF-7	breast:
9	chr4:79962355..79964603-chr4:79966690..79968873,2	K562	blood:
10	chr4:79944609..79947579-chr4:79951684..79954668,2	K562	blood:
11	chr4:79963103..79964922-chr4:79966258..79968873,2	K562	blood:
12	chr4:79959717..79962130-chr4:79962284..79964886,2	K562	blood:
13	chr4:79963314..79963869-chr4:80218868..80219372,2	K562	blood:
14	chr4:79944609..79947579-chr4:79951684..79954668,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000152784	chromatin interactions

Extended variants
information (count: 535 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182982175	chr4:79945314-79945315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142320013	chr4:79945321-79945322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187146472	chr4:79945365-79945366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578079434	chr4:79945367-79945368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537667319	chr4:79945380-79945381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4975155	chr4:79945418-79945419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573822162	chr4:79945442-79945443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6853917	chr4:79945449-79945450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145297961	chr4:79945470-79945471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531756013	chr4:79945481-79945482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567397221	chr4:79945522-79945523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56112016	chr4:79945526-79945527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs564424278	chr4:79945531-79945532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200215721	chr4:79945542-79945543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202221690	chr4:79945543-79945544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532956829	chr4:79945593-79945594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529374666	chr4:79945611-79945612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375096089	chr4:79945633-79945634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147653430	chr4:79945691-79945692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563222079	chr4:79945697-79945698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191960893	chr4:79945704-79945705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183882053	chr4:79945711-79945712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565634418	chr4:79945719-79945720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1383420	chr4:79945736-79945737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551752539	chr4:79945747-79945748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571929583	chr4:79945813-79945814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569330728	chr4:79945815-79945816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188823652	chr4:79945831-79945832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573783631	chr4:79945845-79945846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536393046	chr4:79945866-79945867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74596027	chr4:79945885-79945886	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs17003575	chr4:79945925-79945926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs552062626	chr4:79945955-79945956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545409175	chr4:79945977-79945978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567181850	chr4:79945989-79945990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189569781	chr4:79946002-79946003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577905771	chr4:79946004-79946005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114810917	chr4:79946006-79946007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563521637	chr4:79946007-79946008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534135263	chr4:79946023-79946024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531157356	chr4:79946065-79946066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529105324	chr4:79946082-79946083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370896942	chr4:79946097-79946098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116588380	chr4:79946115-79946116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17003576	chr4:79946127-79946128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs528063778	chr4:79946144-79946145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551384764	chr4:79946209-79946210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571830234	chr4:79946274-79946275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140878024	chr4:79946287-79946288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535914852	chr4:79946379-79946380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79942800-79947000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:79946200-79947200	Enhancers	Stomach Mucosa	stomach
3	chr4:79947000-79947600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:79951400-79951800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:79951800-79952200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:79952000-79952600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:79952200-79952600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:79952200-79952800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:79952200-79953000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:79952400-79952800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:79952400-79952800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr4:79952400-79953800	Enhancers	Fetal Heart	heart
13	chr4:79953800-79958200	Weak transcription	Fetal Heart	heart
14	chr4:79957400-79957600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:79957600-79959000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:79958200-79959800	Enhancers	Fetal Heart	heart
17	chr4:79959000-79959600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:79959800-79964600	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links