Variant report

Variant	nsv822466
Chromosome Location	chr4:7598733-7599587
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	chr4:7593992..7597471-chr4:7599125..7601192,3	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539557333	chr4:7598745-7598746	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs10002768	chr4:7598779-7598780	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373555395	chr4:7598889-7598890	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs147719397	chr4:7598909-7598910	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs13106575	chr4:7598915-7598916	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs553852414	chr4:7598933-7598934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs533397500	chr4:7598978-7598979	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs9992779	chr4:7598979-7598980	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181181832	chr4:7598996-7598997	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs542606127	chr4:7599022-7599023	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573853863	chr4:7599032-7599033	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs13130458	chr4:7599043-7599044	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543972724	chr4:7599093-7599094	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113153354	chr4:7599227-7599228	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368741918	chr4:7599258-7599259	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs545076356	chr4:7599263-7599264	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs535454194	chr4:7599330-7599331	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs186989416	chr4:7599367-7599368	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs374077326	chr4:7599392-7599393	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs116364579	chr4:7599407-7599408	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs561581831	chr4:7599408-7599409	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs532065652	chr4:7599414-7599415	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs73216618	chr4:7599415-7599416	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs550366682	chr4:7599421-7599422	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs571857405	chr4:7599436-7599437	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs539266749	chr4:7599442-7599443	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs140962561	chr4:7599454-7599455	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566451970	chr4:7599456-7599457	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs144291574	chr4:7599486-7599487	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs555088270	chr4:7599518-7599519	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs28489290	chr4:7599544-7599545	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115029040	chr4:7599561-7599562	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs556066571	chr4:7599562-7599563	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7594400-7599600	Enhancers	Brain Germinal Matrix	brain
2	chr4:7595200-7599600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:7596000-7599200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:7596600-7598800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:7596800-7599600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:7596800-7600000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr4:7596800-7600400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:7597000-7599000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:7597400-7598800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr4:7597400-7599000	Enhancers	Brain Anterior Caudate	brain
11	chr4:7597600-7598800	Enhancers	Right Atrium	heart
12	chr4:7597800-7600600	Weak transcription	Right Ventricle	heart
13	chr4:7598000-7599000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:7598200-7599000	Enhancers	Fetal Brain Female	brain
15	chr4:7598400-7598800	Enhancers	NH-A	brain
16	chr4:7598400-7599200	Enhancers	Liver	Liver
17	chr4:7598400-7599400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr4:7598600-7598800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:7598600-7598800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:7598600-7599000	Enhancers	Fetal Heart	heart
21	chr4:7598600-7600400	Weak transcription	Lung	lung
22	chr4:7598600-7600600	Weak transcription	Left Ventricle	heart
23	chr4:7598800-7600600	Weak transcription	Right Atrium	heart
24	chr4:7599000-7599400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:7599200-7606600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:7599400-7599600	Active TSS	Monocytes-CD14+_RO01746	blood

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