Variant report

Variant	esv3403564
Chromosome Location	chr4:3563554-3568452
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	chr4:3557568..3561232-chr4:3567417..3570129,3	K562	blood:

Extended variants
information (count: 372 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373506683	chr4:3563563-3563564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547649198	chr4:3563565-3563566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79235130	chr4:3563596-3563597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570535238	chr4:3563607-3563608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539405165	chr4:3563621-3563622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80136235	chr4:3563635-3563636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73082956	chr4:3563644-3563645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556629942	chr4:3563654-3563655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112490513	chr4:3563673-3563674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73082957	chr4:3563698-3563699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3908384	chr4:3563716-3563717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535942356	chr4:3563743-3563744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116194995	chr4:3563786-3563787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1830548	chr4:3563787-3563788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3908383	chr4:3563831-3563832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554833535	chr4:3563859-3563860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574670917	chr4:3563868-3563869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540554184	chr4:3563874-3563875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62275388	chr4:3563876-3563877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554060444	chr4:3563899-3563900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78484286	chr4:3563948-3563949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115135860	chr4:3563959-3563960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11942604	chr4:3563964-3563965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545520724	chr4:3563967-3563968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562499444	chr4:3563982-3563983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11940823	chr4:3563987-3563988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376267626	chr4:3563988-3563989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10805015	chr4:3564021-3564022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541892298	chr4:3564058-3564059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10937935	chr4:3564064-3564065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11940855	chr4:3564073-3564074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561959723	chr4:3564074-3564075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527853779	chr4:3564092-3564093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547689814	chr4:3564106-3564107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564402304	chr4:3564121-3564122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2750110	chr4:3564122-3564123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111459217	chr4:3564133-3564134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10805016	chr4:3564140-3564141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183731678	chr4:3564147-3564148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535611218	chr4:3564175-3564176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549465949	chr4:3564200-3564201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368879198	chr4:3564209-3564210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568263740	chr4:3564217-3564218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10805017	chr4:3564238-3564239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533932712	chr4:3564267-3564268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553999696	chr4:3564344-3564345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574248087	chr4:3564360-3564361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71636723	chr4:3564364-3564365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577110197	chr4:3564373-3564374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539696016	chr4:3564398-3564399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	18438408	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3550600-3580400	Weak transcription	Right Atrium	heart
2	chr4:3558400-3565200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:3558800-3574600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:3563400-3564200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr4:3565200-3565600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:3567800-3568800	Enhancers	Fetal Brain Male	brain
7	chr4:3568000-3568200	Enhancers	Fetal Lung	lung
8	chr4:3568000-3569000	Enhancers	Fetal Brain Female	brain

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