Variant report

Variant	nsv523039
Chromosome Location	chr4:96361153-96401647
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:96371347..96373454-chr4:96379943..96382667,2	MCF-7	breast:
2	chr4:96370256..96372247-chr4:96372627..96375587,3	MCF-7	breast:
3	chr4:96383275..96386043-chr4:96386949..96389147,2	K562	blood:
4	chr4:96387531..96390133-chr4:96391936..96394020,2	K562	blood:
5	chr4:96387531..96390133-chr4:96391936..96394020,2	K562	blood:
6	chr4:96383413..96385489-chr4:96406573..96408820,2	MCF-7	breast:
7	chr4:96356418..96358420-chr4:96366268..96368706,2	K562	blood:
8	chr4:96360959..96362706-chr4:96363216..96366003,2	K562	blood:
9	chr4:96360959..96362706-chr4:96363216..96366003,2	K562	blood:
10	chr4:96383275..96386043-chr4:96386949..96389147,2	K562	blood:
11	chr4:96356212..96358546-chr4:96371177..96373429,2	MCF-7	breast:
12	chr4:96370256..96372247-chr4:96372627..96375587,3	MCF-7	breast:
13	chr4:96371347..96373454-chr4:96379943..96382667,2	MCF-7	breast:

No data

Extended variants
information (count: 1648 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1648 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3912477	chr4:96361153-96361154	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs189176802	chr4:96361213-96361214	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs540341488	chr4:96361235-96361236	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs560612654	chr4:96361239-96361240	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs147854496	chr4:96361278-96361279	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs141094570	chr4:96361290-96361291	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs181666347	chr4:96361317-96361318	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs545836588	chr4:96361318-96361319	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs531588977	chr4:96361348-96361349	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs551366300	chr4:96361352-96361353	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs146938611	chr4:96361374-96361375	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs564579003	chr4:96361382-96361383	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs547201198	chr4:96361399-96361400	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs137997366	chr4:96361402-96361403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185951887	chr4:96361427-96361428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115489500	chr4:96361438-96361439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569221619	chr4:96361462-96361463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528611728	chr4:96361497-96361498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538125179	chr4:96361566-96361567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs265016	chr4:96361590-96361591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs265017	chr4:96361598-96361599	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540607394	chr4:96361671-96361672	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs79568050	chr4:96361689-96361690	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs62308766	chr4:96361693-96361694	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs542845476	chr4:96361705-96361706	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs190275886	chr4:96361742-96361743	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs531649397	chr4:96361758-96361759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs544944178	chr4:96361817-96361818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565162309	chr4:96361818-96361819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527321244	chr4:96361824-96361825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201730109	chr4:96361832-96361833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397974446	chr4:96361841-96361842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377490969	chr4:96361898-96361899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370912509	chr4:96361969-96361970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143761604	chr4:96362076-96362077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547357284	chr4:96362104-96362105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17023881	chr4:96362183-96362184	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529702142	chr4:96362215-96362216	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs538522099	chr4:96362220-96362221	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs377626970	chr4:96362229-96362230	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs575086101	chr4:96362235-96362236	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs2629840	chr4:96362265-96362266	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183054168	chr4:96362337-96362338	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs265018	chr4:96362497-96362498	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542757407	chr4:96362568-96362569	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs148127524	chr4:96362574-96362575	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs73838830	chr4:96362584-96362585	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554160710	chr4:96362593-96362594	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs574189342	chr4:96362651-96362652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145142520	chr4:96362664-96362665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96350800-96384400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:96351200-96361200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:96354000-96363000	Weak transcription	Brain Angular Gyrus	brain
4	chr4:96358800-96374000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:96359600-96361600	Enhancers	Fetal Lung	lung
6	chr4:96359600-96361800	Enhancers	Fetal Kidney	kidney
7	chr4:96359600-96362200	Enhancers	Brain Substantia Nigra	brain
8	chr4:96359800-96361600	Enhancers	Brain Hippocampus Middle	brain
9	chr4:96360000-96361600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:96360400-96361200	Enhancers	HUVEC	blood vessel
11	chr4:96360600-96362600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr4:96360800-96361200	Enhancers	Brain Anterior Caudate	brain
13	chr4:96361000-96361200	Enhancers	Ovary	ovary
14	chr4:96361000-96361400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:96361000-96361400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:96361000-96361400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:96361000-96361400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:96361000-96361400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:96361000-96361400	Enhancers	Aorta	Aorta
20	chr4:96361000-96362400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:96361000-96362400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:96361000-96362600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr4:96361000-96363200	Enhancers	Brain Cingulate Gyrus	brain
24	chr4:96361000-96373000	Weak transcription	Fetal Stomach	stomach
25	chr4:96361200-96361600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:96361200-96361600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:96361200-96361600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:96361200-96361800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:96361200-96366600	Weak transcription	Brain Anterior Caudate	brain
30	chr4:96361400-96363200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:96361400-96363600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:96361400-96394200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:96361600-96361800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:96361600-96362400	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:96361600-96366600	Weak transcription	Fetal Lung	lung
36	chr4:96361800-96362600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:96361800-96378000	Weak transcription	Fetal Kidney	kidney
38	chr4:96362200-96362400	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr4:96362400-96362600	Active TSS	Brain Substantia Nigra	brain
40	chr4:96362400-96363200	Enhancers	Brain Hippocampus Middle	brain
41	chr4:96362600-96363000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr4:96362600-96363200	Enhancers	Brain Substantia Nigra	brain
43	chr4:96362600-96363800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:96363000-96363200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr4:96363000-96363800	Enhancers	Brain Angular Gyrus	brain
46	chr4:96363200-96364200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:96363200-96366400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr4:96363200-96366400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr4:96363200-96366600	Weak transcription	Brain Hippocampus Middle	brain
50	chr4:96363200-96367600	Weak transcription	Brain Substantia Nigra	brain

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