Variant report

Variant	nsv593275
Chromosome Location	chr4:1089492-1090485
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	chr4:1073585..1077671-chr4:1089546..1092795,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178222	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555450807	chr4:1089496-1089497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71604349	chr4:1089504-1089505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12647129	chr4:1089521-1089522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7670406	chr4:1089536-1089537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71602724	chr4:1089556-1089557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573697575	chr4:1089557-1089558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541026733	chr4:1089562-1089563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113107949	chr4:1089563-1089564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs71604356	chr4:1089580-1089581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs71602725	chr4:1089593-1089594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs112390261	chr4:1089597-1089598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559421862	chr4:1089598-1089599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs367884709	chr4:1089608-1089609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113359730	chr4:1089622-1089623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527977205	chr4:1089630-1089631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs113958078	chr4:1089639-1089640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs71604351	chr4:1089647-1089648	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs71602722	chr4:1089652-1089653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs71604357	chr4:1089654-1089655	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111484186	chr4:1089656-1089657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546532031	chr4:1089674-1089675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564490660	chr4:1089676-1089677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531935415	chr4:1089681-1089682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549964642	chr4:1089682-1089683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111241058	chr4:1089713-1089714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs66732071	chr4:1089726-1089727	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs112573123	chr4:1089733-1089734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs57096673	chr4:1089740-1089741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs71604352	chr4:1089757-1089758	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534805223	chr4:1089785-1089786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547364826	chr4:1089790-1089791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs565770469	chr4:1089791-1089792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112742902	chr4:1089799-1089800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539321516	chr4:1089815-1089816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371667640	chr4:1089816-1089817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs78461909	chr4:1089824-1089825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376679733	chr4:1089839-1089840	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113463570	chr4:1089844-1089845	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558036824	chr4:1089850-1089851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs111266324	chr4:1089852-1089853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372138671	chr4:1089874-1089875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537243204	chr4:1089900-1089901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs76082306	chr4:1089903-1089904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs56311530	chr4:1089911-1089912	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs369664150	chr4:1089962-1089963	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112575714	chr4:1090021-1090022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs111609415	chr4:1090067-1090068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555322909	chr4:1090077-1090078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573759162	chr4:1090078-1090079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs59471070	chr4:1090080-1090081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD
Breast cancer	20932292	CNVD
Cancer	20164919	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1084200-1093400	Weak transcription	Ovary	ovary
2	chr4:1086000-1098400	Weak transcription	Lung	lung
3	chr4:1086200-1091400	Weak transcription	Gastric	stomach
4	chr4:1086200-1098600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:1087600-1090400	Weak transcription	Pancreas	Pancrea
6	chr4:1088400-1093400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:1088600-1093600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:1090400-1093400	Enhancers	Pancreas	Pancrea

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