Variant report

Variant	nsv594136
Chromosome Location	chr4:48720691-48722701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48720217..48721926-chr4:48727442..48730398,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115097924	chr4:48720733-48720734	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs954608	chr4:48720783-48720784	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538242312	chr4:48720787-48720788	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs192061115	chr4:48720851-48720852	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs76858180	chr4:48720872-48720873	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs60696356	chr4:48720875-48720876	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs34298829	chr4:48720970-48720971	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs11732876	chr4:48720985-48720986	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs369520595	chr4:48721025-48721026	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs539766106	chr4:48721106-48721107	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs184706626	chr4:48721211-48721212	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs551617926	chr4:48721290-48721291	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs2354314	chr4:48721327-48721328	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs147111341	chr4:48721345-48721346	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs561562532	chr4:48721362-48721363	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs79186097	chr4:48721474-48721475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555266572	chr4:48721484-48721485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73815322	chr4:48721490-48721491	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560700201	chr4:48721492-48721493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527896010	chr4:48721499-48721500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546468402	chr4:48721541-48721542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189437178	chr4:48721551-48721552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531878555	chr4:48721565-48721566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550129806	chr4:48721588-48721589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568384754	chr4:48721602-48721603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529152400	chr4:48721621-48721622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368900869	chr4:48721623-48721624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367691434	chr4:48721633-48721634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565492111	chr4:48721748-48721749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375462346	chr4:48721756-48721757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534399792	chr4:48721759-48721760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552579093	chr4:48721775-48721776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569396858	chr4:48721805-48721806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149178426	chr4:48721907-48721908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555311973	chr4:48721957-48721958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182434431	chr4:48721958-48721959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542467621	chr4:48721965-48721966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184130506	chr4:48722055-48722056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572819594	chr4:48722080-48722081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111735468	chr4:48722165-48722166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200284645	chr4:48722166-48722167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546406988	chr4:48722180-48722181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564701274	chr4:48722226-48722227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577192045	chr4:48722227-48722228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531812358	chr4:48722235-48722236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559909420	chr4:48722236-48722237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543568132	chr4:48722254-48722255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562074398	chr4:48722267-48722268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372162134	chr4:48722275-48722276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529275095	chr4:48722335-48722336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	21115979	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48700200-48730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:48701000-48729600	Weak transcription	Aorta	Aorta
4	chr4:48701800-48724600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:48702800-48720800	Weak transcription	Small Intestine	intestine
6	chr4:48703400-48722800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:48705600-48728800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:48707400-48720800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:48709000-48723600	Weak transcription	Left Ventricle	heart
10	chr4:48709000-48724600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:48709000-48726400	Weak transcription	Ovary	ovary
12	chr4:48711800-48724400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:48712000-48723200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:48712200-48724000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:48712200-48724400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:48712400-48721000	Weak transcription	Liver	Liver
17	chr4:48712400-48721000	Weak transcription	Brain Anterior Caudate	brain
18	chr4:48712400-48727200	Weak transcription	HSMM	muscle
19	chr4:48712600-48724000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr4:48712600-48724600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:48712800-48724400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr4:48712800-48727800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:48712800-48728200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:48712800-48731000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:48713000-48720800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:48713000-48720800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:48713000-48724000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:48713000-48724200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:48713000-48724800	Weak transcription	NHEK	skin
30	chr4:48713000-48725200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:48713000-48727800	Weak transcription	HMEC	breast
32	chr4:48713000-48728200	Weak transcription	Primary B cells from cord blood	blood
33	chr4:48713000-48728200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr4:48713200-48724200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:48713200-48724400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:48716000-48724000	Weak transcription	Brain Hippocampus Middle	brain
37	chr4:48718600-48721400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr4:48719000-48724000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:48719600-48721600	Enhancers	Brain Substantia Nigra	brain
40	chr4:48719800-48724200	Weak transcription	Primary T cells from cord blood	blood
41	chr4:48720000-48720800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr4:48720000-48727800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:48720000-48727800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:48720000-48737000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:48720200-48720800	Enhancers	HepG2	liver
46	chr4:48720200-48724600	Weak transcription	Dnd41	blood
47	chr4:48720200-48730000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:48720400-48721000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:48720600-48721200	Strong transcription	Primary hematopoietic stem cells	blood
50	chr4:48720600-48721200	Enhancers	Fetal Intestine Small	intestine

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