Variant report

Variant	nsv593611
Chromosome Location	chr4:7454696-7457459
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:7456112-7456210	Kidney_OC	kidney:	n/a	n/a
2	MYC	chr4:7456148-7456364	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:7452936..7455745-chr4:7457448..7459365,2	MCF-7	breast:
2	chr4:7455060..7457538-chr4:7459563..7461357,2	K562	blood:
3	chr4:7452936..7455745-chr4:7457448..7459365,2	MCF-7	breast:

Variant related genes	Relation type
MIR4274	TF binding region

Extended variants
information (count: 139 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200668671	chr4:7454698-7454699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540524551	chr4:7454713-7454714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374232926	chr4:7454714-7454715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149032795	chr4:7454734-7454735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563376283	chr4:7454754-7454755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575383834	chr4:7454783-7454784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546054526	chr4:7454787-7454788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564251734	chr4:7454791-7454792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374028566	chr4:7454803-7454804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116068891	chr4:7454808-7454809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561975225	chr4:7454809-7454810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529272876	chr4:7454810-7454811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550530329	chr4:7454825-7454826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201184873	chr4:7454868-7454869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199910727	chr4:7454879-7454880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs202173497	chr4:7454887-7454888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567425937	chr4:7454899-7454900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569023016	chr4:7454906-7454907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368258310	chr4:7454939-7454940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539533170	chr4:7454940-7454941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551590675	chr4:7455018-7455019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566951246	chr4:7455065-7455066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201141497	chr4:7455070-7455071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189165714	chr4:7455102-7455103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555796538	chr4:7455158-7455159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200302972	chr4:7455169-7455170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112265976	chr4:7455178-7455179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375694636	chr4:7455189-7455190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556963238	chr4:7455191-7455192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575439409	chr4:7455206-7455207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368768699	chr4:7455209-7455210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558023197	chr4:7455239-7455240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572960828	chr4:7455271-7455272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540373456	chr4:7455295-7455296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55930129	chr4:7455318-7455319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199560312	chr4:7455353-7455354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561854228	chr4:7455382-7455383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529150008	chr4:7455400-7455401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544231266	chr4:7455443-7455444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562524047	chr4:7455454-7455455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3888319	chr4:7455463-7455464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551452988	chr4:7455520-7455521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566918693	chr4:7455544-7455545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201661993	chr4:7455614-7455615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527884979	chr4:7455649-7455650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549527629	chr4:7455655-7455656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200784354	chr4:7455657-7455658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199921127	chr4:7455695-7455696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80263579	chr4:7455712-7455713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528303428	chr4:7455732-7455733	Weak transcription	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7437800-7462400	Weak transcription	Right Atrium	heart
2	chr4:7454200-7455000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:7454400-7458200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:7455000-7460000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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