Variant report

Variant	esv2217569
Chromosome Location	chr4:9956653-9957334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557000129	chr4:9956673-9956674	Active TSS Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6449156	chr4:9956712-9956713	Active TSS Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs78768193	chr4:9956715-9956716	Active TSS Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144816074	chr4:9956735-9956736	Active TSS Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557738354	chr4:9956752-9956753	Active TSS Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572887299	chr4:9956757-9956758	Active TSS Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540525732	chr4:9956804-9956805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4481234	chr4:9956821-9956822	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs140251000	chr4:9956826-9956827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191853659	chr4:9956832-9956833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532092084	chr4:9956849-9956850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567338769	chr4:9956862-9956863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530882395	chr4:9956933-9956934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552644587	chr4:9956946-9956947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554846775	chr4:9956960-9956961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544079670	chr4:9956983-9956984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562797717	chr4:9957038-9957039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570502682	chr4:9957067-9957068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528512369	chr4:9957089-9957090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546867936	chr4:9957105-9957106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73098622	chr4:9957139-9957140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71181004	chr4:9957143-9957144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540673381	chr4:9957208-9957209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568448733	chr4:9957271-9957272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11931794	chr4:9957291-9957292	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs150352262	chr4:9957294-9957295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
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
Sezary syndrome	18413736	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9911400-9979800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:9928000-9960000	Weak transcription	Esophagus	oesophagus
3	chr4:9938200-9957600	Weak transcription	Fetal Stomach	stomach
4	chr4:9944000-9979400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:9944600-9964400	Weak transcription	HMEC	breast
6	chr4:9949000-9958400	Weak transcription	NHEK	skin
7	chr4:9949800-9979400	Weak transcription	Liver	Liver
8	chr4:9950000-9966600	Weak transcription	Psoas Muscle	Psoas
9	chr4:9950400-9959000	Weak transcription	Right Atrium	heart
10	chr4:9954800-9957400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:9954800-9958800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:9955400-9964000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:9955600-9956800	Strong transcription	Fetal Intestine Small	intestine
14	chr4:9955800-9959000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:9956000-9960000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr4:9956000-9962800	Strong transcription	HepG2	liver
17	chr4:9956000-9963200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr4:9956200-9956800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:9956600-9956800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:9956600-9958400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:9956600-9964200	Weak transcription	Fetal Intestine Large	intestine
22	chr4:9956800-9964000	Weak transcription	Fetal Intestine Small	intestine

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