Variant report

Variant	esv3367011
Chromosome Location	chr4:151049031-151053489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151053147..151055043-chr4:151055083..151056849,2	K562	blood:
2	chr4:151040500..151042275-chr4:151050939..151052686,2	MCF-7	breast:
3	chr4:151053345..151055043-chr4:151055104..151056849,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAB21L2-6	chr4:151051109-151051314	NONHSAT098728

Extended variants
information (count: 157 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72965554	chr4:151049102-151049103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6848344	chr4:151049132-151049133	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs554300790	chr4:151049141-151049142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192566843	chr4:151049161-151049162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72965555	chr4:151049162-151049163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs556626900	chr4:151049172-151049173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576902591	chr4:151049270-151049271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567891952	chr4:151049287-151049288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183056996	chr4:151049307-151049308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145420386	chr4:151049342-151049343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187428918	chr4:151049348-151049349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535219436	chr4:151049372-151049373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561423374	chr4:151049385-151049386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547161026	chr4:151049440-151049441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192559627	chr4:151049569-151049570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12506111	chr4:151049574-151049575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs367731887	chr4:151049587-151049588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563616888	chr4:151049609-151049610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147697654	chr4:151049707-151049708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371174641	chr4:151049722-151049723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7695751	chr4:151049810-151049811	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566072645	chr4:151049866-151049867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534566745	chr4:151049873-151049874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570144056	chr4:151049890-151049891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12711270	chr4:151049948-151049949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs13109942	chr4:151050012-151050013	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142495092	chr4:151050059-151050060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536978118	chr4:151050062-151050063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556763896	chr4:151050107-151050108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576833618	chr4:151050129-151050130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555228857	chr4:151050168-151050169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539534028	chr4:151050170-151050171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552655659	chr4:151050181-151050182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150245823	chr4:151050192-151050193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541896841	chr4:151050209-151050210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184837271	chr4:151050252-151050253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575244839	chr4:151050270-151050271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544010493	chr4:151050300-151050301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138915411	chr4:151050336-151050337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7667342	chr4:151050375-151050376	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs149004205	chr4:151050436-151050437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559637429	chr4:151050457-151050458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73860925	chr4:151050460-151050461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548208958	chr4:151050463-151050464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567990524	chr4:151050464-151050465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530733284	chr4:151050465-151050466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550325406	chr4:151050514-151050515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7667241	chr4:151050525-151050526	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs539116817	chr4:151050600-151050601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553032715	chr4:151050609-151050610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Intellectual disability	22102821	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151038200-151051600	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:151038800-151070000	Weak transcription	Ovary	ovary
3	chr4:151039000-151052800	Weak transcription	Right Ventricle	heart
4	chr4:151043200-151052200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:151043400-151051600	Weak transcription	Brain Substantia Nigra	brain
6	chr4:151044200-151052800	Weak transcription	Brain Germinal Matrix	brain
7	chr4:151044600-151049400	Enhancers	Primary B cells from peripheral blood	blood
8	chr4:151045200-151099000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:151045400-151052800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:151047200-151049600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:151047200-151049600	Enhancers	NHDF-Ad	bronchial
12	chr4:151047200-151049800	Enhancers	NHLF	lung
13	chr4:151047200-151050000	Enhancers	HSMMtube	muscle
14	chr4:151047200-151050200	Enhancers	HSMM	muscle
15	chr4:151047200-151050400	Enhancers	Osteobl	bone
16	chr4:151047400-151049200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:151047400-151049200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:151047400-151049400	Enhancers	NHEK	skin
19	chr4:151047400-151058200	Weak transcription	Left Ventricle	heart
20	chr4:151047600-151049200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:151047800-151049200	Enhancers	HMEC	breast
22	chr4:151047800-151051600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:151048000-151049200	Enhancers	Brain Cingulate Gyrus	brain
24	chr4:151048000-151050400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:151048200-151049400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:151048200-151049600	Weak transcription	Fetal Heart	heart
27	chr4:151048200-151050400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:151048200-151050400	Enhancers	NH-A	brain
29	chr4:151048200-151050600	Enhancers	A549	lung
30	chr4:151048200-151051800	Weak transcription	Colon Smooth Muscle	Colon
31	chr4:151048400-151049200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:151048400-151049200	Enhancers	Primary B cells from cord blood	blood
33	chr4:151048400-151051800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:151048400-151057000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:151048600-151049600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:151048600-151049600	Enhancers	Brain Anterior Caudate	brain
37	chr4:151048800-151049200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr4:151048800-151049600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:151049000-151049400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:151049200-151049400	Enhancers	Lung	lung
41	chr4:151049200-151052400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:151049200-151052800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr4:151049200-151057800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:151049200-151074000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr4:151049400-151051200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:151049400-151051600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:151049400-151051800	Weak transcription	Lung	lung
48	chr4:151049600-151050400	Enhancers	Fetal Heart	heart
49	chr4:151049600-151051200	Weak transcription	Brain Anterior Caudate	brain
50	chr4:151049600-151051400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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