Variant report

Variant	nsv470052
Chromosome Location	chr4:90055898-90075384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:90056532..90059832-chr4:90060213..90062873,3	K562	blood:
2	chr4:90043352..90045261-chr4:90054968..90057885,2	MCF-7	breast:
3	chr4:90072737..90075893-chr4:90099370..90102220,3	K562	blood:
4	chr4:90036580..90038226-chr4:90055929..90057591,2	K562	blood:
5	chr4:90056532..90059832-chr4:90060213..90062873,3	K562	blood:
6	chr4:90031102..90033625-chr4:90058274..90060653,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271359	chromatin interactions
ENSG00000138640	chromatin interactions

Extended variants
information (count: 706 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:706 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1398946	chr4:90055899-90055900	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573036990	chr4:90055901-90055902	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs1398945	chr4:90055914-90055915	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs115442721	chr4:90055929-90055930	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs7692291	chr4:90055959-90055960	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181637907	chr4:90055963-90055964	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs541090357	chr4:90056105-90056106	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs374720064	chr4:90056143-90056144	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs139261687	chr4:90056166-90056167	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs559930471	chr4:90056170-90056171	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs186380845	chr4:90056181-90056182	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs150054264	chr4:90056255-90056256	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs59924504	chr4:90056332-90056333	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs12647781	chr4:90056378-90056379	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs74906937	chr4:90056423-90056424	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs145408722	chr4:90056432-90056433	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs528318328	chr4:90056480-90056481	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs368268546	chr4:90056497-90056498	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs149180368	chr4:90056542-90056543	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs143585858	chr4:90056587-90056588	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs61391120	chr4:90056593-90056594	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs200806634	chr4:90056594-90056595	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs201929974	chr4:90056595-90056596	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs199807023	chr4:90056596-90056597	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs567852082	chr4:90056704-90056705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191137123	chr4:90056709-90056710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144863607	chr4:90056724-90056725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372842959	chr4:90056755-90056756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182554918	chr4:90056843-90056844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537351497	chr4:90056844-90056845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559059576	chr4:90056862-90056863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141254920	chr4:90056870-90056871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17015055	chr4:90056903-90056904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376694093	chr4:90056905-90056906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553487464	chr4:90056907-90056908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146926115	chr4:90056941-90056942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542215971	chr4:90056956-90056957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563543304	chr4:90057006-90057007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530787228	chr4:90057050-90057051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147972761	chr4:90057054-90057055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116555536	chr4:90057062-90057063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528257433	chr4:90057108-90057109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546418983	chr4:90057110-90057111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72668187	chr4:90057111-90057112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs528972551	chr4:90057194-90057195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143085861	chr4:90057238-90057239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140732334	chr4:90057246-90057247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568761187	chr4:90057279-90057280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539465497	chr4:90057293-90057294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150155183	chr4:90057302-90057303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Multiple myeloma	17550852	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
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90044800-90056000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:90046000-90056200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:90050800-90059000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:90051000-90056000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:90051200-90056000	Weak transcription	NHLF	lung
6	chr4:90051400-90056000	Weak transcription	Osteobl	bone
7	chr4:90052400-90056000	Weak transcription	A549	lung
8	chr4:90052800-90056000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:90054800-90056000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:90055200-90056000	Weak transcription	NH-A	brain
11	chr4:90055200-90056200	Enhancers	NHDF-Ad	bronchial
12	chr4:90055400-90056400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:90055400-90057000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:90055400-90058200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:90055800-90056000	Active TSS	Brain Anterior Caudate	brain
16	chr4:90055800-90056000	Enhancers	Brain Cingulate Gyrus	brain
17	chr4:90055800-90056000	Enhancers	Brain Hippocampus Middle	brain
18	chr4:90055800-90056200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:90055800-90056200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:90055800-90056200	Enhancers	Fetal Intestine Large	intestine
21	chr4:90055800-90056600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:90055800-90058600	Enhancers	NHEK	skin
23	chr4:90056000-90056200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:90056000-90056200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:90056000-90056200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:90056000-90056200	Active TSS	Brain Angular Gyrus	brain
27	chr4:90056000-90056200	Enhancers	Brain Germinal Matrix	brain
28	chr4:90056000-90056200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:90056000-90056200	Enhancers	Right Atrium	heart
30	chr4:90056000-90056200	Enhancers	HSMMtube	muscle
31	chr4:90056000-90056400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:90056000-90056400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:90056000-90056400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:90056000-90056400	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr4:90056000-90056400	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr4:90056000-90056400	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr4:90056000-90056400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr4:90056000-90056400	Enhancers	Brain Substantia Nigra	brain
39	chr4:90056000-90056400	Enhancers	Colon Smooth Muscle	Colon
40	chr4:90056000-90056400	Enhancers	Fetal Kidney	kidney
41	chr4:90056000-90056400	Enhancers	Fetal Lung	lung
42	chr4:90056000-90056400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr4:90056000-90056400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr4:90056000-90056400	Enhancers	HMEC	breast
45	chr4:90056000-90056400	Enhancers	NH-A	brain
46	chr4:90056000-90056400	Enhancers	NHLF	lung
47	chr4:90056000-90056400	Enhancers	Osteobl	bone
48	chr4:90056000-90056600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr4:90056000-90056600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr4:90056000-90056600	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links