Variant report

Variant	nsv290639
Chromosome Location	chr4:31151466-31151987
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	chr4:31145390..31148497-chr4:31150587..31153361,3	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533113204	chr4:31151466-31151467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60050175	chr4:31151470-31151471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112474094	chr4:31151511-31151512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370108734	chr4:31151513-31151514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564716206	chr4:31151559-31151560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186258318	chr4:31151560-31151561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541130896	chr4:31151661-31151662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559448238	chr4:31151685-31151686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148873100	chr4:31151758-31151759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548375079	chr4:31151786-31151787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563630698	chr4:31151802-31151803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145501415	chr4:31151827-31151828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377288281	chr4:31151828-31151829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6448743	chr4:31151833-31151834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs552584200	chr4:31151865-31151866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116546614	chr4:31151883-31151884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6448744	chr4:31151925-31151926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191548550	chr4:31151930-31151931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183055936	chr4:31151933-31151934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543884239	chr4:31151973-31151974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201802938	chr4:31151985-31151986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200486684	chr4:31151987-31151988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
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
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:31143000-31151800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:31145600-31154400	Weak transcription	Fetal Heart	heart
3	chr4:31149200-31151800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:31149600-31151600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:31150000-31151600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:31151000-31151800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:31151400-31152600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:31151600-31152800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:31151600-31158400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:31151800-31158000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:31151800-31158000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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